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

1–12 of 131 variants

8 papers

NM_006277.3

p.V291I

c.871G>A

4 papers

NM_006277.3

p.S339C

c.1016C>G

4 papers

NM_006277.3

p.E438G

c.1313A>G

4 papers

NM_006277.3

p.A1534T

c.4600G>A

3 papers

NM_006277.3

p.R382H

c.1145G>A

3 papers

NM_006277.3

p.L1260P

c.3779T>C

2 papers

NM_006277.3

p.I340V

c.1018A>G

2 papers

NM_006277.3

p.R459C

c.1375C>T

2 papers

NM_006277.3

p.Q478K

c.1432C>A

2 papers

NM_006277.3

p.Q716K

c.2146C>A

2 papers

NM_006277.3

p.R753Splc

c.2257+1G>A

2 papers

NM_006277.3

p.Y980C

c.2939A>G