Varaico: Literature-Extracted Genetic Variants

CASKIN2

90 papers

RefSeq Summary

This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein intera...

Pfam Domains

Ank_2aa 7–112UCSCAnkyrin repeats (3 copies)

Ank_2aa 104–175UCSCAnkyrin repeats (3 copies)

Ank_2aa 169–251UCSCAnkyrin repeats (3 copies)

SH3_2aa 285–345UCSCVariant SH3 domain

Gene Aliases

HGNC Name

CASK interacting protein 2

HGNC Alias Symbols

KIAA1139; FLJ21609; ANKS5B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020753.5

p.A530V

c.1589C>T

Surrounding Variants

1 paper

NM_020753.5

p.A530S

c.1588G>T

1 paper

NM_020753.5

p.T529M

c.1586C>T

1 paper

NM_020753.5

p.D527G

c.1580A>G

1 paper

NM_020753.5

p.G537E

c.1610G>A

1 paper

NM_020753.5

p.K540E

c.1618A>G

1 paper

NM_020753.5

p.R522C

c.1564C>T

1 paper

NM_020753.5

p.Y515Y

c.1545T>C

1 paper

NM_001142643.3

p.Y433H

c.1297T>C

NM_020753.5

p.Y515H

c.1543T>C

1 paper

NM_020753.5

p.Q502_L503ins1

c.1506_1507insTAC

1 paper

NM_020753.5

p.T561T

c.1683G>A

1 paper

NM_020753.5

p.N604D

c.1810A>G

1 paper

NM_020753.5

p.L606L

c.1818C>T