Varaico: Literature-Extracted Genetic Variants

ITSN2

131 papers

RefSeq Summary

This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the...

Pfam Domains

EHaa 18–104UCSCEH domain

EHaa 242–338UCSCEH domain

SH3_9aa 764–814UCSCVariant SH3 domain

SH3_2aa 902–954UCSCVariant SH3 domain

SH3_1aa 987–1031UCSCSH3 domain

SH3_1aa 1059–1109UCSCSH3 domain

Gene Aliases

HGNC Name

intersectin 2

HGNC Previous Symbol

SH3D1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006277.3

p.R753Splc

c.2258-19A>G

Surrounding Variants

2 papers

NM_006277.3

p.R753Splc

c.2257+1G>A

1 paper

NM_006277.3

p.K752Q

c.2254A>C

1 paper

NM_006277.3

p.K743M

c.2228A>T

1 paper

NM_006277.3

p.R740H

c.2219G>A

1 paper

NM_006277.3

p.E736insFs

c.2207_2208insT

1 paper

NM_006277.3

p.K717ins2

c.2150_2151ins6

1 paper

NM_006277.3

p.K717T

c.2150A>C

1 paper

NM_006277.3

p.Q716E

c.2146C>G

2 papers

NM_006277.3

p.Q716K

c.2146C>A

1 paper

NM_006277.3

p.R694Splc

c.2081+1G>A

1 paper

NM_006277.3

p.N655K

c.1965C>G

1 paper

NM_006277.3

p.N655K

c.1965C>A