Varaico: Literature-Extracted Genetic Variants

Gene:KRT85
Variant:p.P483L

KRT85

102 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 66–119UCSCKeratin type II head
Filamentaa 122–433UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 85

HGNC Previous Symbol

KRTHB5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002283.4
p.P483L
c.1448C>T
Surrounding Variants
1 paper
NM_002283.4
p.P483fs
c.1447_1448fs
2 papers
NM_002283.4
p.P483delFs
c.1448_1449delAG
1 paper
NM_002283.4
p.R502P
c.1505G>C
1 paper
NM_002283.4
p.R505C
c.1513C>T
1 paper
NM_002283.4
p.R449H
c.1346G>A
1 paper
NM_002283.4
p.R449C
c.1345C>T
1 paper
NM_002283.4
p.R433Splc
c.1298+1G>A
1 paper
NM_002283.4
p.R425H
c.1274G>A
1 paper
NM_002283.4
p.G415G
c.1245C>A
1 paper
NM_002283.4
p.G415A
c.1244G>C
1 paper
NM_002283.4
p.C383Y
c.1148G>A
1 paper
NM_002283.4
p.S379delins
c.1135_1137delinsGCT
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