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.P151L

c.452C>T

Surrounding Variants

1 paper

NM_020753.5

p.P151P

c.453C>T

1 paper

NM_020753.5

p.N145S

c.434A>G

1 paper

NM_020753.5

p.C142Y

c.425G>A

2 papers

NM_020753.5

p.L168L

c.504G>A

1 paper

NM_020753.5

p.C173R

c.517T>C

1 paper

NM_020753.5

p.T191T

c.573G>A

1 paper

NM_020753.5

p.A111A

c.333C>T

1 paper

NM_020753.5

p.A107T

c.319G>A

1 paper

NM_020753.5

p.A104T

c.310G>A

1 paper

NM_020753.5

p.W91R

c.271T>C

1 paper

NM_020753.5

p.Y88Y

c.264C>T

1 paper

NM_001142643.3

p.R2C

c.4C>T