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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PSORS1C1

PSORS1C1

36 papers

RefSeq Summary

This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provide...

Pfam Domains

SEEK1aa 4–152UCSCPsoriasis susceptibility 1 candidate 1

Gene Aliases

HGNC Name

psoriasis susceptibility 1 candidate 1

HGNC Alias Symbol

SEEK1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 24 variants

8 papers

chr6:31138723 T>TC

NM_014068.3

p.H40insFs

c.118dupC

SEEK1

Exome: 11.4% (AC=166415, hom=11606)Genome: 13.2% (AC=19884, hom=1461)54 overlapping SVs

6 papers

chr6:31138682 C>A

NM_014068.3

p.P24T

c.70C>A

SEEK1

Exome: 10.0% (AC=146719, hom=8734)Genome: 12.1% (AC=18403, hom=1232)54 overlapping SVs

6 papers

chr6:31139871 C>T

NM_014068.3

p.P133L

c.398C>T

SEEK1

Exome: 16.3% (AC=238242, hom=20001)Genome: 15.5% (AC=23624, hom=1931)54 overlapping SVs

4 papers

chr6:31138722 G>A

NM_014068.3

p.R37H

c.110G>A

SEEK1

Exome: 12.5% (AC=182852, hom=12117)Genome: 13.6% (AC=19962, hom=1412)54 overlapping SVs

4 papers

chr6:31138730 CAC>N

NM_014068.3

p.H40fs

c.118_119fs

SEEK1

exact variant not in gnomAD54 overlapping SVs

3 papers

chr6:31138712 G>A

NM_014068.3

p.E34K

c.100G>A

SEEK1

Exome: 5.9% (AC=85875, hom=3270)Genome: 4.8% (AC=6827, hom=251)54 overlapping SVs

3 papers

chr6:31138721 C>CN

NM_014068.3

p.R37fs

c.109_110fs

SEEK1

exact variant not in gnomAD54 overlapping SVs

2 papers

chr6:31138739 C>T

NM_014068.3

p.P43S

c.127C>T

SEEK1

Exome: 3.3% (AC=48847, hom=1630)Genome: 6.3% (AC=9623, hom=498)54 overlapping SVs

2 papers

chr6:31139645 G>T

NM_014068.3

p.A58S

c.172G>T

SEEK1

Exome: 0.1% (AC=1623, hom=30)Genome: 1.0% (AC=1561, hom=30)54 overlapping SVs

2 papers

chr6:31139670 C>G

NM_014068.3

p.S66C

c.197C>G

SEEK1

Exome: 0.2% (AC=2229, hom=22)Genome: 0.7% (AC=1072, hom=17)54 overlapping SVs

1 paper

chr6:31138363 A>C

NM_014068.3

p.D5Splc

c.14-67A>C

Exome: 0.3% (AC=2202, hom=0)Genome: 0.0% (AC=11, hom=0)54 overlapping SVs

1 paper

chr6:31138430 AC>A

NM_014068.3

p.D5delFs

c.15delC

SEEK1

exact variant not in gnomAD54 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."