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

1–12 of 297 variants

5 papers

NM_003024.3

p.R368*

c.1102C>T

4 papers

NM_003024.3

p.E576*

c.1726G>T

4 papers

NM_003024.3

p.M948delFs

c.2842_2843delAT

4 papers

NM_003024.3

p.L1700R

c.5099T>G

3 papers

NM_003024.3

p.P180S

c.538C>T

3 papers

NM_003024.3

p.Q654*

c.1960C>T

3 papers

NM_003024.3

p.M948fs

c.2842_2843fs

3 papers

NM_003024.3

p.Y965*

c.2895C>A

3 papers

NM_003024.3

p.Y965*

c.2895C>G

3 papers

NM_003024.3

p.K1367R

c.4100A>G

3 papers

NM_003024.3

p.Q1636H

c.4908G>C

3 papers

NM_003024.3

p.Q1636H

c.4908G>T