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.D290E

c.870C>G

Surrounding Variants

1 paper

NM_006277.3

p.D290E

c.870C>A

8 papers

NM_006277.3

p.V291I

c.871G>A

4 papers

NM_006277.3

p.S339C

c.1016C>G

2 papers

NM_006277.3

p.I340V

c.1018A>G

1 paper

NM_006277.3

p.S275L

c.824C>T

1 paper

NM_006277.3

p.F266I

c.796T>A

1 paper

NM_006277.3

p.Y371C

c.1112A>G

1 paper

NM_006277.3

p.M376V

c.1126A>G

3 papers

NM_006277.3

p.R382H

c.1145G>A

1 paper

NM_006277.3

p.Q388Q

c.1164G>A

1 paper

NM_006277.3

p.R391_E392ins7

c.1171_1175ins21

1 paper

NM_006277.3

p.E400G

c.1199A>G