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

2 papers

NM_020753.5

p.R250R

c.750G>A

Surrounding Variants

1 paper

NM_020753.5

p.T252T

c.756G>A

1 paper

NM_001142643.3

p.A175fs

c.523_524fs

1 paper

NM_020753.5

p.T265I

c.794C>T

1 paper

NM_020753.5

p.R278R

c.834G>A

1 paper

NM_020753.5

p.N294T

c.881A>C

1 paper

NM_020753.5

p.E242E

c.726G>A

1 paper

NM_020753.5

p.V237V

c.711G>A

1 paper

NM_020753.5

p.T221T

c.663G>C

2 papers

NM_020753.5

p.T221T

c.663G>A

1 paper

NM_020753.5

p.Q207H

c.621G>T

1 paper

NM_020753.5

p.Q207H

c.621G>C

1 paper

NM_020753.5

p.T191T

c.573G>A