Varaico: Literature-Extracted Genetic Variants

Gene:KRT85
Variant:p.R180W

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
2 papers
NM_002283.4
p.R180W
c.538C>T
Surrounding Variants
1 paper
NM_002283.4
p.L168_Y175del0
c.502_525del24
1 paper
NM_002283.4
p.D189N
c.565G>A
1 paper
NM_002283.4
p.S166G
c.496A>G
1 paper
NM_002283.4
p.E165A
c.494A>C
2 papers
NM_002283.4
p.V200V
c.600G>A
1 paper
NM_002283.4
p.K210Splc
c.629+95C>T
1 paper
NM_002283.4
p.E214E
c.642G>A
1 paper
NM_002283.4
p.K230_D231Splc
c.691-17C>T
1 paper
NM_002283.4
p.D231D
c.693C>T
1 paper
NM_002283.4
p.D233N
c.697G>A
1 paper
NM_002283.4
p.D231_A235del5
c.691_704del15
1 paper
NM_002283.4
p.E252Q
c.754G>C
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