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_019595.4

p.L1497I

c.4489C>A

Surrounding Variants

1 paper

NM_006277.3

p.T1526P

c.4576A>C

1 paper

NM_006277.3

p.H1517R

c.4550A>G

1 paper

NM_006277.3

p.D1509G

c.4526A>G

1 paper

NM_006277.3

p.T1491_P1492Splc

c.4474-2A>G

1 paper

NM_006277.3

p.Q1485*

c.4453C>T

2 papers

NM_006277.3

p.N1456S

c.4367A>G

1 paper

NM_006277.3

p.T1533A

c.4597A>G

4 papers

NM_006277.3

p.A1534T

c.4600G>A

2 papers

NM_006277.3

p.Y1442S

c.4325A>C

1 paper

NM_006277.3

p.L1435fs

c.4303_4304fs

1 paper

NM_006277.3

p.K1434_L1435insFs

c.4302_4303insAT

1 paper

NM_006277.3

p.K1553Q

c.4657A>C