Varaico: Literature-Extracted Genetic Variants

Gene:KRT34
Variant:p.F247L

KRT34

70 papers

RefSeq Summary

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

Pfam Domains

Filamentaa 55–366UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 34

HGNC Previous Symbol

KRTHA4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001386014.1
p.F247L
c.741C>G
Surrounding Variants
1 paper
NM_001386014.1
p.F247L
c.741C>A
1 paper
NM_001386014.1
p.F247L
c.739T>C
1 paper
NM_001386014.1
p.I238T
c.713T>C
1 paper
NM_001386014.1
p.S230R
c.690T>G
1 paper
NM_001386014.1
p.S230R
c.690T>A
1 paper
NM_001386014.1
p.S230N
c.689G>A
1 paper
NM_001386014.1
p.S230R
c.688A>C
1 paper
NM_001386014.1
p.E285Q
c.853G>C
1 paper
NM_001386014.1
p.E285A
c.854A>C
1 paper
NM_001386014.1
p.Q310*
c.928C>T
1 paper
NM_001386014.1
p.D344insFs
c.1030_1031insC
1 paper
NM_001386014.1
p.V345delFs
c.1033delC
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