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.E1703K

c.5107G>A

Surrounding Variants

1 paper

NM_003024.3

p.P1705insFs

c.5115dupC

4 papers

NM_003024.3

p.L1700R

c.5099T>G

2 papers

NM_003024.3

p.V1695G

c.5084T>G

2 papers

NM_003024.3

p.V1695fs

c.5083_5084fs

2 papers

NM_003024.3

p.P1694insFs

c.5080dupC

1 paper

NM_003024.3

p.G1693insFs

c.5078_5079insC

3 papers

NM_003024.3

p.Q1689insFs

c.5065dupC

1 paper

NM_003024.3

p.R1681H

c.5042G>A

2 papers

NM_003024.3

p.T1678M

c.5033C>T

1 paper

NM_003024.3

p.F1650F

c.4950C>T

3 papers

NM_003024.3

p.Q1636H

c.4908G>C

3 papers

NM_003024.3

p.Q1636H

c.4908G>T