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.V990G

c.2969T>G

Surrounding Variants

1 paper

NM_020753.5

p.R992Q

c.2975G>A

1 paper

NM_020753.5

p.E986D

c.2958A>T

1 paper

NM_020753.5

p.E986D

c.2958A>C

1 paper

NM_020753.5

p.T985P

c.2953A>C

1 paper

NM_020753.5

p.D981E

c.2943T>G

1 paper

NM_020753.5

p.D981E

c.2943T>A

1 paper

NM_020753.5

p.V976G

c.2927T>G

1 paper

NM_020753.5

p.P975insFs

c.2925dupC

1 paper

NM_020753.5

p.L1006L

c.3016C>T

1 paper

NM_020753.5

p.G1010R

c.3028G>C

1 paper

NM_020753.5

p.G1010R

c.3028G>A

1 paper

NM_020753.5

p.K965K

c.2895G>A