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.K1313N

c.3939G>C

Surrounding Variants

1 paper

NM_003024.3

p.K1313N

c.3939G>T

1 paper

NM_003024.3

p.E1308*

c.3922G>T

1 paper

NM_003024.3

p.M1305I

c.3915G>A

1 paper

NM_003024.3

p.M1305I

c.3915G>C

1 paper

NM_003024.3

p.M1305I

c.3915G>T

1 paper

NM_003024.3

p.L1299L

c.3897G>A

1 paper

NM_003024.3

p.S1334N

c.4001G>A

1 paper

NM_003024.3

p.R1335R

c.4005C>G

1 paper

NM_003024.3

p.A1341T

c.4021G>A

1 paper

NM_003024.3

p.T1347M

c.4040C>T

2 papers

NM_003024.3

p.D1348D

c.4044T>C

1 paper

NM_003024.3

p.E1349A

c.4046A>C