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.Q728fs

c.2182_2183fs

Surrounding Variants

2 papers

NM_020753.5

p.Q728insFs

c.2182dupC

1 paper

NM_020753.5

p.Q728fs

c.2182_2183fs

1 paper

NM_020753.5

p.S744Y

c.2231C>A

1 paper

NM_020753.5

p.P753S

c.2257C>T

1 paper

NM_020753.5

p.R694C

c.2080C>T

1 paper

NM_020753.5

p.P689H

c.2066C>A

1 paper

NM_020753.5

p.L688P

c.2063T>C

1 paper

NM_020753.5

p.R663Q

c.1988G>A

1 paper

NM_020753.5

p.P662Q

c.1985C>A

1 paper

NM_020753.5

p.G656V

c.1967G>T

1 paper

NM_020753.5

p.N653N

c.1959C>T

1 paper

NM_020753.5

p.E649K

c.1945G>A