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.A905T

c.2713G>A

Surrounding Variants

1 paper

NM_006277.3

p.L901F

c.2703A>T

1 paper

NM_006277.3

p.L901F

c.2703A>C

1 paper

NM_006277.3

p.H916_H922del0

c.2748_2765del18

1 paper

NM_006277.3

p.H940R

c.2819A>G

1 paper

NM_006277.3

p.E814Q

c.2440G>C

1 paper

NM_006277.3

p.A979V

c.2936C>T

2 papers

NM_006277.3

p.Y980C

c.2939A>G

1 paper

NM_006277.3

p.V995A

c.2984T>C

1 paper

NM_006277.3

p.I1022T

c.3065T>C

1 paper

NM_006277.3

p.S1031L

c.3092C>T

1 paper

NM_006277.3

p.E1040_S1041Splc

c.3120+9A>G

1 paper

NM_006277.3

p.S1062L

c.3185C>T