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.P1342S

c.4024C>T

Surrounding Variants

1 paper

NM_006277.3

p.S1345_P1350del6

c.4033_4049del18

1 paper

NM_006277.3

p.R1356C

c.4066C>T

1 paper

NM_006277.3

p.W1407_I1408insFs

c.4221_4222insAT

2 papers

NM_006277.3

p.E1415A

c.4244A>C

1 paper

NM_006277.3

p.E1419_Q1420Splc

c.4258-9C>A

1 paper

NM_006277.3

p.K1434_L1435insFs

c.4302_4303insAT

1 paper

NM_006277.3

p.L1435fs

c.4303_4304fs

2 papers

NM_006277.3

p.Y1442S

c.4325A>C

2 papers

NM_006277.3

p.N1456S

c.4367A>G

1 paper

NM_006277.3

p.Q1485*

c.4453C>T

1 paper

NM_006277.3

p.S1306N

c.3917G>A

1 paper

NM_006277.3

p.A1293S

c.3877G>T