Varaico: Literature-Extracted Genetic Variants

Gene:KRT85
Variant:p.K296E

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.K296E
c.886A>G
Surrounding Variants
1 paper
NM_002283.4
p.D289_I291delFs
c.867_871del5
1 paper
NM_002283.4
p.A269T
c.805G>A
1 paper
NM_002283.4
p.V266I
c.796G>A
1 paper
NM_002283.4
p.R344S
c.1030C>A
1 paper
NM_002283.4
p.R344R
c.1032C>A
1 paper
NM_002283.4
p.A351A
c.1053C>T
1 paper
NM_002283.4
p.I353V
c.1057A>G
1 paper
NM_002283.4
p.Q359insFs
c.1075_1076insG
1 paper
NM_002283.4
p.Y260C
c.779A>G
1 paper
NM_002283.4
p.L259delFs
c.775delG
1 paper
NM_002283.4
p.R257M
c.770G>T
1 paper
NM_002283.4
p.R257K
c.770G>A
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