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

1 paper

NM_003024.3

p.A130fs

c.388_389fs

Surrounding Variants

1 paper

NM_003024.3

p.V129insFs

c.387dupT

1 paper

NM_003024.3

p.T127fs

c.379_380fs

1 paper

NM_003024.3

p.T127delFs

c.380delC

1 paper

NM_003024.3

p.P125R

c.374C>G

1 paper

NM_003024.3

p.G135E

c.404G>A

1 paper

NM_003024.3

p.P124L

c.371C>T

1 paper

NM_003024.3

p.M117V

c.349A>G

1 paper

NM_003024.3

p.G116Splc

c.347-2A>G

1 paper

NM_003024.3

p.T145insFs

c.434_435insA

1 paper

NM_003024.3

p.L146fs

c.436_437fs

1 paper

NM_003024.3

p.L146_V147delFs

c.438_441del4

1 paper

NM_003024.3

p.V147fs

c.439_440fs