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.T906P

c.2716A>C

Surrounding Variants

2 papers

NM_020753.5

p.E891G

c.2672A>G

2 papers

NM_020753.5

p.P922L

c.2765C>T

1 paper

NM_020753.5

p.A923D

c.2768C>A

1 paper

NM_020753.5

p.P884L

c.2651C>T

1 paper

NM_020753.5

p.D928N

c.2782G>A

1 paper

NM_020753.5

p.P873delFs

c.2619delG

1 paper

NM_020753.5

p.P873fs

c.2617_2618fs

3 papers

NM_020753.5

p.T939M

c.2816C>T

1 paper

NM_020753.5

p.P940L

c.2819C>T

1 paper

NM_020753.5

p.P964P

c.2892G>A

1 paper

NM_020753.5

p.K965K

c.2895G>A

1 paper

NM_020753.5

p.P975insFs

c.2925dupC