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.L1245V

c.3733C>G

Surrounding Variants

1 paper

NM_006277.3

p.R1238C

c.3712C>T

3 papers

NM_006277.3

p.L1260P

c.3779T>C

1 paper

NM_006277.3

p.V1273A

c.3818T>C

1 paper

NM_006277.3

p.I1287T

c.3860T>C

1 paper

NM_006277.3

p.A1293S

c.3877G>T

2 papers

NM_006277.3

p.A1293T

c.3877G>A

1 paper

NM_006277.3

p.S1306N

c.3917G>A

1 paper

NM_006277.3

p.E1233*

c.3697G>T

1 paper

NM_006277.3

p.V1232I

c.3694G>A

1 paper

NM_006277.3

p.I1214delFs

c.3640_3641delAT

2 papers

NM_006277.3

p.I1214fs

c.3640_3641fs

1 paper

NM_006277.3

p.Q1211*

c.3631C>T