Varaico: Literature-Extracted Genetic Variants

ITSN1

138 papers

RefSeq Summary

The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein...

Pfam Domains

EHaa 17–111UCSCEH domain

EHaa 217–310UCSCEH domain

SH3_9aa 747–802UCSCVariant SH3 domain

INTAPaa 803–917UCSCIntersectin and clathrin adaptor AP2 binding region

SH3_1aa 919–963UCSCSH3 domain

SH3_1aa 1008–1052UCSCSH3 domain

Gene Aliases

HGNC Name

intersectin 1

HGNC Previous Symbol

SH3D1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_003024.3

p.M948delFs

c.2842_2843delAT

Surrounding Variants

3 papers

NM_003024.3

p.M948fs

c.2842_2843fs

2 papers

NM_003024.3

p.M948V

c.2842A>G

1 paper

NM_003024.3

p.W949*

c.2846G>A

1 paper

NM_003024.3

p.W949L

c.2846G>T

1 paper

NM_003024.3

p.W949*

c.2847G>A

1 paper

NM_003024.3

p.W950*

c.2849G>A

1 paper

NM_003024.3

p.W950*

c.2850G>A

2 papers

NM_003024.3

p.L943delFs

c.2827_2828delCT

1 paper

NM_003024.3

p.D938H

c.2812G>C

1 paper

NM_003024.3

p.K936E

c.2806A>G

1 paper

NM_003024.3

p.F961C

c.2882T>G

1 paper

NM_003024.3

p.N930S

c.2789A>G