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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KRT84

KRT84

106 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 16–161UCSCKeratin type II head

Filamentaa 164–475UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 84

HGNC Previous Symbol

KRTHB4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 87 variants

3 papers

chr12:52385224 C>T

NM_033045.4

p.G121D

c.362G>A

Keratin_2_head

Exome: 0.5% (AC=6888, hom=34)Genome: 0.5% (AC=791, hom=4)29 overlapping SVs

3 papers

chr12:52385045 C>A

NM_033045.4

p.D181Y

c.541G>T

Filament

Exome: 0.3% (AC=4061, hom=9)Genome: 0.2% (AC=309, hom=2)29 overlapping SVs

3 papers

chr12:52383794 C>T

NM_033045.4

p.R184Q

c.551G>A

Filament

Exome: 21.5% (AC=308282, hom=37803)Genome: 32.0% (AC=48575, hom=9733)29 overlapping SVs

2 papers

chr12:52385516 T>C

NM_033045.4

p.T24A

c.70A>G

Keratin_2_head

exact variant not in gnomAD29 overlapping SVs

2 papers

chr12:52385344 G>A

NM_033045.4

p.A81V

c.242C>T

Keratin_2_head

exact variant not in gnomAD29 overlapping SVs

2 papers

chr12:52383795 G>A

NM_033045.4

p.R184W

c.550C>T

Filament

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=4, hom=0)29 overlapping SVs

2 papers

chr12:52383729 T>C

NM_033045.4

p.I206V

c.616A>G

Filament

Exome: 21.9% (AC=318391, hom=38588)Genome: 32.0% (AC=48663, hom=9782)29 overlapping SVs

2 papers

chr12:52380451 A>G

NM_033045.4

p.C446R

c.1336T>C

Filament

Exome: 77.4% (AC=1131039, hom=438851)Genome: 81.3% (AC=123711, hom=50745)30 overlapping SVs

2 papers

chr12:52378149 A>T

NM_033045.4

p.V563D

c.1688T>A

Exome: 0.2% (AC=3006, hom=6)Genome: 0.2% (AC=248, hom=0)29 overlapping SVs

1 paper

chr12:52385573 A>T

NM_033045.4

p.S5T

c.13T>A

exact variant not in gnomAD29 overlapping SVs

1 paper

chr12:52385565 T>G

NM_033045.4

p.R7R

c.21A>C

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=2, hom=0)29 overlapping SVs

1 paper

chr12:52385564 C>T

NM_033045.4

p.V8I

c.22G>A

exact variant not in gnomAD29 overlapping SVs

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