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

1–12 of 123 variants

3 papers

NM_020753.5

p.T939M

c.2816C>T

2 papers

NM_020753.5

p.Q20H

c.60G>C

2 papers

NM_020753.5

p.L168L

c.504G>A

2 papers

NM_020753.5

p.T221T

c.663G>A

2 papers

NM_020753.5

p.R250R

c.750G>A

2 papers

NM_020753.5

p.V410M

c.1228G>A

2 papers

NM_020753.5

p.P454L

c.1361C>T

2 papers

NM_020753.5

p.E487G

c.1460A>G

2 papers

NM_020753.5

p.R623Q

c.1868G>A

2 papers

NM_020753.5

p.Q728fs

c.2182_2183fs

2 papers

NM_020753.5

p.Q728insFs

c.2182dupC

2 papers

NM_020753.5

p.E891G

c.2672A>G