Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP2-2
Variant:p.T112fs

KRTAP2-2

24 papers

Pfam Domains

Keratin_B2aa 1–73UCSCKeratin, high sulfur B2 protein
Keratin_B2aa 1–73UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 2-2

HGNC Alias Symbol

KAP2.2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033032.3
p.T112fs
c.334_335fs
Surrounding Variants
1 paper
NM_033032.3
p.P111_T112delFs
c.333_334delTC
1 paper
NM_033032.3
p.G109ins5
c.325_326ins15
1 paper
NM_033032.3
p.S115I
c.344G>T
1 paper
NM_033032.3
p.P101_S106del6
c.301_317del18
1 paper
NM_033032.3
p.P101_S106del0
c.303_317del15
1 paper
NM_033032.3
p.S122T
c.364T>A
2 papers
NM_033032.3
p.Q100R
c.299A>G
5 papers
NM_033032.3
p.W94*
c.282G>A
5 papers
NM_033032.3
p.W94*
c.281G>A
1 paper
NM_033032.3
p.C92fs
c.274_275fs
1 paper
NM_033032.3
p.S83_C92del0
c.249_275del27
4 papers
NM_033032.3
p.C92S
c.275G>C
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