Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP4-3
Variant:p.Q31L

KRTAP4-3

35 papers

Pfam Domains

Keratin_B2_2aa 1–63UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 39–93UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 69–113UCSCKeratin, high sulfur B2 protein
Keratin_B2_2aa 99–143UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 4-3

HGNC Alias Symbol

KAP4.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_033187.2
p.Q31L
c.92A>T
Surrounding Variants
2 papers
NM_033187.2
p.R26H
c.77G>A
1 paper
NM_033187.2
p.R36S
c.108G>T
1 paper
NM_033187.2
p.R36S
c.108G>C
1 paper
NM_033187.2
p.R26S
c.76C>A
1 paper
NM_033187.2
p.T37S
c.109A>T
1 paper
NM_033187.2
p.T37S
c.110C>G
1 paper
NM_033187.2
p.S23fs
c.67_68fs
1 paper
NM_033187.2
p.E22_S23insFs
c.66_67ins10
1 paper
NM_033187.2
p.Q17_L19delFs
c.51_55del5
1 paper
NM_033187.2
p.S47fs
c.139_140fs
1 paper
NM_033187.2
p.S47delFs
c.139delA
1 paper
NM_033187.2
p.S47fs
c.139_140fs
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