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

1 paper

NM_030967.3

p.C70delFs

c.209delC

Surrounding Variants

1 paper

NM_030967.3

p.C70fs

c.208_209fs

1 paper

NM_030967.3

p.S79T

c.236G>C

1 paper

NM_030967.3

p.P58R

c.173C>G

4 papers

NM_030967.3

p.Q51*

c.151C>T

1 paper

NM_030967.3

p.S48_C49insFs

c.144_145insGC

1 paper

NM_030967.3

p.S48fs

c.142_143fs

1 paper

NM_030967.3

p.P47fs

c.139_140fs

1 paper

NM_030967.3

p.G96D

c.287G>A

5 papers

NM_030967.3

p.R38S

c.112C>A

1 paper

NM_030967.3

p.C35Y

c.104G>A

8 papers

NM_030967.3

p.S34C

c.101C>G

1 paper

NM_030967.3

p.G18_C30delFs

c.54_90del37