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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT82

KRT82

84 papers

RefSeq Summary

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II...

Pfam Domains

Keratin_2_headaa 60–116UCSCKeratin type II head

Filamentaa 119–430UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 82

HGNC Previous Symbol

KRTHB2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 72 variants

5 papers

chr12:52406139 G>A

NM_033033.4

p.R47*

c.139C>T

Exome: 0.4% (AC=5542, hom=11)Genome: 0.2% (AC=374, hom=0)27 overlapping SVs

4 papers

chr12:52395144 G>A

NM_033033.4

p.T458M

c.1373C>T

Exome: 47.1% (AC=687787, hom=167166)Genome: 42.0% (AC=63879, hom=14140)27 overlapping SVs

3 papers

chr12:52406004 T>C

NM_033033.4

p.I92V

c.274A>G

Keratin_2_head

Exome: 0.3% (AC=3825, hom=3)Genome: 0.1% (AC=221, hom=0)27 overlapping SVs

3 papers

chr12:52396900 C>T

NM_033033.4

p.E351K

c.1051G>A

Filament

Exome: 0.1% (AC=1050, hom=4)Genome: 0.1% (AC=92, hom=1)27 overlapping SVs

3 papers

chr12:52395784 G>C

NM_033033.4

p.C432W

c.1296C>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a27 overlapping SVs

2 papers

chr12:52406238 TGC>T

NM_033033.4

p.G13delFs

c.38_39delGC

Exome: 0.0% (AC=452, hom=3)Genome: 0.0% (AC=58, hom=0)27 overlapping SVs

2 papers

chr12:52406201 C>T

NM_033033.4

p.R26Q

c.77G>A

Exome: 0.0% (AC=83, hom=0)Genome: 0.0% (AC=25, hom=0)27 overlapping SVs

2 papers

chr12:52405971 C>T

NM_033033.4

p.V103I

c.307G>A

Keratin_2_head

Exome: n/aGenome: 0.0% (AC=1, hom=0)27 overlapping SVs

2 papers

chr12:52405891 G>C

NM_033033.4

p.N129K

c.387C>G

Filament

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)27 overlapping SVs

2 papers

chr12:52405891 G>T

NM_033033.4

p.N129K

c.387C>A

Filament

Exome: 0.4% (AC=6479, hom=19)Genome: 0.3% (AC=489, hom=1)27 overlapping SVs

2 papers

chr12:52403750 C>G

NM_033033.4

p.E191Q

c.571G>C

Filament

Exome: 0.0% (AC=264, hom=0)Genome: 0.0% (AC=12, hom=0)26 overlapping SVs

2 papers

chr12:52395774 C>G

NM_033033.4

p.G436R

c.1306G>C

Exome: 0.0% (AC=4, hom=0)Genome: n/a27 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."