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.S753F

c.2258C>T

Surrounding Variants

1 paper

NM_003024.3

p.S755insFs

c.2263dupA

1 paper

NM_003024.3

p.A747T

c.2239G>A

2 papers

NM_003024.3

p.V743L

c.2227G>C

2 papers

NM_003024.3

p.V743L

c.2227G>T

1 paper

NM_003024.3

p.M768_V769Splc

c.2304+1G>A

1 paper

NM_003024.3

p.M768_V769Splc

c.2304+1G>C

1 paper

NM_003024.3

p.Q711*

c.2131C>T

1 paper

NM_003024.3

p.E695G

c.2084A>G

1 paper

NM_003024.3

p.E685K

c.2053G>A

1 paper

NM_003024.3

p.R674T

c.2021G>C

1 paper

NM_003024.3

p.D657G

c.1970A>G

3 papers

NM_003024.3

p.Q654*

c.1960C>T