Varaico: Literature-Extracted Genetic Variants

Gene:KRT39
Variant:p.L82Q

KRT39

75 papers

RefSeq Summary

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form t...

Pfam Domains

Filamentaa 95–406UCSCIntermediate filament protein

Gene Aliases

HGNC Name

keratin 39

HGNC Alias Symbol

KA35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_213656.4
p.L82Q
c.245T>A
Surrounding Variants
1 paper
NM_213656.4
p.D83Y
c.247G>T
1 paper
NM_213656.4
p.S86N
c.257G>A
1 paper
NM_213656.4
p.I92V
c.274A>G
3 papers
NM_213656.4
p.E98Q
c.292G>C
1 paper
NM_213656.4
p.E98D
c.294G>T
1 paper
NM_213656.4
p.E98D
c.294G>C
1 paper
NM_213656.4
p.I102N
c.305T>A
1 paper
NM_213656.4
p.L103*
c.308T>A
1 paper
NM_213656.4
p.Q60E
c.178C>G
1 paper
NM_213656.4
p.Q129*
c.385C>T
1 paper
NM_213656.4
p.E131*
c.391G>T
1 paper
NM_213656.4
p.I22I
c.66T>A
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