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

1–12 of 174 variants

5 papers

NM_015073.3

p.D148Y

c.442G>T

5 papers

NM_015073.3

p.R1497*

c.4489C>T

3 papers

NM_015073.3

p.A55_T56del2

c.163_167del6

3 papers

NM_015073.3

p.A283V

c.848C>T

3 papers

NM_015073.3

p.S1059L

c.3176C>T

2 papers

NM_015073.3

p.M1K

c.2T>A

2 papers

NM_015073.3

p.P54L

c.161C>T

2 papers

NM_015073.3

p.A63_T64ins0

c.187_192dup6

2 papers

NM_015073.3

p.G315A

c.944G>C

2 papers

NM_015073.3

p.E354delFs

c.1062delG

2 papers

NM_015073.3

p.E354D

c.1062G>C

2 papers

NM_015073.3

p.E354D

c.1062G>T