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.T567A

c.1699A>G

Surrounding Variants

1 paper

NM_003024.3

p.L565F

c.1693C>T

1 paper

NM_003024.3

p.A571delFs

c.1713delC

2 papers

NM_003024.3

p.L572*

c.1715T>A

2 papers

NM_003024.3

p.L572*

c.1715T>G

4 papers

NM_003024.3

p.E576*

c.1726G>T

1 paper

NM_003024.3

p.Q598*

c.1792C>T

1 paper

NM_003024.3

p.I600T

c.1799T>C

1 paper

NM_003024.3

p.Q554*

c.1660C>T

1 paper

NM_003024.3

p.D550N

c.1648G>A

1 paper

NM_003024.3

p.I547fs

c.1639_1640fs

1 paper

NM_003024.3

p.Q546insFs

c.1637dupA

1 paper

NM_003024.3

p.S534Y

c.1601C>A