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.T1531fs

c.4591_4592fs

Surrounding Variants

1 paper

NM_003024.3

p.T1531delFs

c.4592_4593delCC

1 paper

NM_003024.3

p.R1547C

c.4639C>T

1 paper

NM_003024.3

p.R1552Q

c.4655G>A

1 paper

NM_003024.3

p.K1517R

c.4550A>G

1 paper

NM_003024.3

p.N1510N

c.4530C>T

1 paper

NM_003024.3

p.T1493M

c.4478C>T

1 paper

NM_003024.3

p.Q1491fs

c.4471_4472fs

1 paper

NM_003024.3

p.Q1491insFs

c.4471dupC

1 paper

NM_003024.3

p.K1476E

c.4426A>G

1 paper

NM_003024.3

p.K1462N

c.4386A>C

1 paper

NM_003024.3

p.K1462N

c.4386A>T

2 papers

NM_001331010.2

p.R1456C

c.4366C>T

NM_003024.3

p.R1461C

c.4381C>T