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.A153fs

c.457_458fs

Surrounding Variants

1 paper

NM_003024.3

p.A153T

c.457G>A

1 paper

NM_003024.3

p.T152T

c.456A>G

1 paper

NM_003024.3

p.A153E

c.458C>A

1 paper

NM_003024.3

p.A154S

c.460G>T

1 paper

NM_003024.3

p.T152insFs

c.455_456dupCA

2 papers

NM_003024.3

p.L158insFs

c.472dupC

1 paper

NM_003024.3

p.L158delFs

c.472delC

1 paper

NM_003024.3

p.P156fs

c.466_467fs

1 paper

NM_003024.3

p.P157_L158insFs

c.471_472insA

1 paper

NM_003024.3

p.L158fs

c.472_473fs

1 paper

NM_003024.3

p.A159_P164del6

c.475_491del18

1 paper

NM_003024.3

p.V147fs

c.439_440fs