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.L1146F

c.3436C>T

Surrounding Variants

1 paper

NM_006277.3

p.D1163H

c.3487G>C

2 papers

NM_006277.3

p.G1116D

c.3347G>A

1 paper

NM_006277.3

p.P1108S

c.3322C>T

1 paper

NM_006277.3

p.R1102*

c.3304C>T

1 paper

NM_006277.3

p.K1101fs

c.3301_3302fs

1 paper

NM_006277.3

p.G1089E

c.3266G>A

1 paper

NM_006277.3

p.S1062L

c.3185C>T

1 paper

NM_006277.3

p.E1040_S1041Splc

c.3120+9A>G

1 paper

NM_006277.3

p.S1031L

c.3092C>T

1 paper

NM_006277.3

p.I1022T

c.3065T>C

1 paper

NM_006277.3

p.V995A

c.2984T>C

2 papers

NM_006277.3

p.Y980C

c.2939A>G