Varaico: Literature-Extracted Genetic Variants

KRTAP1-1

52 papers

RefSeq Summary

This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family m...

Pfam Domains

Keratin_B2aa 1–49UCSCKeratin, high sulfur B2 protein

Keratin_B2aa 48–84UCSCKeratin, high sulfur B2 protein

Keratin_B2aa 65–177UCSCKeratin, high sulfur B2 protein

Gene Aliases

HGNC Name

keratin associated protein 1-1

HGNC Alias Symbols

KAP1.1B; HB2A; KAP1.1; KAP1.1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_030967.3

p.I116V

c.346A>G

Surrounding Variants

1 paper

NM_030967.3

p.R115C

c.343C>T

1 paper

NM_030967.3

p.P132R

c.395C>G

1 paper

NM_030967.3

p.C133fs

c.397_398fs

1 paper

NM_030967.3

p.C134C

c.402C>T

1 paper

NM_030967.3

p.G96D

c.287G>A

1 paper

NM_030967.3

p.V136M

c.406G>A

1 paper

NM_030967.3

p.C144_Q145insGC

c.430_434ins6

1 paper

NM_030967.3

p.S79T

c.236G>C

2 papers

NM_030967.3

p.R155C

c.463C>T

1 paper

NM_030967.3

p.C70delFs

c.209delC

1 paper

NM_030967.3

p.C70fs

c.208_209fs

1 paper

NM_030967.3

p.P58R

c.173C>G