Varaico: Literature-Extracted Genetic Variants

SIPA1L3

134 papers

RefSeq Summary

This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regul...

Pfam Domains

Rap-GAP_dimeraa 500–570UCSCRap/Ran-GAP protein dimerization domain

Rap_GAPaa 640–822UCSCRap/ran-GAP

PDZaa 966–1038UCSCPDZ domain

SPAR_Caa 1477–1726UCSCC-terminal domain of SPAR protein

Gene Aliases

HGNC Name

signal induced proliferation associated 1 like 3

HGNC Alias Symbols

KIAA0545; SPAR3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015073.3

p.P54L

c.161C>T

Surrounding Variants

2 papers

NM_015073.3

p.A63_T64ins0

c.187_192dup6

3 papers

NM_015073.3

p.A55_T56del2

c.163_167del6

1 paper

NM_015073.3

p.A73T

c.217G>A

1 paper

NM_015073.3

p.D33E

c.99C>A

1 paper

NM_015073.3

p.D33E

c.99C>G

1 paper

NM_015073.3

p.T31T

c.93A>G

1 paper

NM_015073.3

p.A81G

c.242C>G

1 paper

NM_015073.3

p.G19delFs

c.55_56delGG

1 paper

NM_015073.3

p.G11D

c.32G>A

1 paper

NM_015073.3

p.S9S

c.27C>T

1 paper

NM_015073.3

p.A6V

c.17C>T

1 paper

NM_015073.3

p.A6T

c.16G>A