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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAM83C

FAM83C

45 papers

RefSeq Summary

This gene encodes a member of the family with sequence similarity 83 protein family. The encoded protein may be involved in regulating MAPK signaling in cancer cells. [provided by RefSeq, Mar 2017].

Pfam Domains

SACK1aa 29–306UCSCScaffolding anchor of CK1 domain

Gene Aliases

HGNC Name

family with sequence similarity 83 member C

HGNC Previous Symbol

C20orf128

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

3 papers

chr20:35288885 C>T

NM_178468.6

p.R196H

c.587G>A

SACK1

Exome: 0.1% (AC=958, hom=7)Genome: 0.0% (AC=71, hom=0)11 overlapping SVs

2 papers

chr20:35291905 C>T

NM_178468.6

p.E134K

c.400G>A

SACK1

Exome: 0.3% (AC=4697, hom=47)Genome: 1.4% (AC=2137, hom=34)9 overlapping SVs

2 papers

chr20:35288940 C>T

NM_178468.6

p.D178N

c.532G>A

SACK1

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

2 papers

chr20:35287895 C>A

NM_178468.6

p.R295L

c.884G>T

SACK1

Exome: 0.5% (AC=6691, hom=17)Genome: 0.4% (AC=608, hom=4)10 overlapping SVs

2 papers

chr20:35286856 G>A

NM_178468.6

p.F641F

c.1923C>T

Exome: 0.2% (AC=2344, hom=2)Genome: 0.1% (AC=185, hom=1)9 overlapping SVs

2 papers

chr20:35286794 G>A

NM_178468.6

p.T662M

c.1985C>T

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=2, hom=0)9 overlapping SVs

2 papers

chr20:35286543 C>G

NM_178468.6

p.E746Q

c.2236G>C

Exome: 0.1% (AC=915, hom=11)Genome: 0.1% (AC=165, hom=4)9 overlapping SVs

1 paper

chr20:35292240 C>T

NM_178468.6

p.R22Q

c.65G>A

Exome: 0.0% (AC=327, hom=10)Genome: 0.0% (AC=19, hom=1)9 overlapping SVs

1 paper

chr20:35292187 G>A

NM_178468.6

p.R40W

c.118C>T

SACK1

Exome: 0.0% (AC=147, hom=1)Genome: 0.0% (AC=12, hom=0)9 overlapping SVs

1 paper

chr20:35292157 C>A

NM_178468.6

p.D50Y

c.148G>T

SACK1

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr20:35292106 C>T

NM_178468.6

p.E67K

c.199G>A

SACK1

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr20:35291907 G>C

NM_178468.6

p.P133R

c.398C>G

SACK1

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=3, hom=0)9 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."