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

1 paper

NM_015073.3

p.S361P

c.1081T>C

Surrounding Variants

1 paper

NM_015073.3

p.R365W

c.1093C>T

1 paper

NM_015073.3

p.R365Q

c.1094G>A

2 papers

NM_015073.3

p.E354D

c.1062G>C

2 papers

NM_015073.3

p.E354D

c.1062G>T

2 papers

NM_015073.3

p.E354delFs

c.1062delG

2 papers

NM_015073.3

p.T370M

c.1109C>T

1 paper

NM_015073.3

p.M381T

c.1142T>C

1 paper

NM_015073.3

p.S387L

c.1160C>T

1 paper

NM_015073.3

p.G393A

c.1178G>C

1 paper

NM_015073.3

p.R316H

c.947G>A

2 papers

NM_015073.3

p.G315A

c.944G>C

1 paper

NM_015073.3

p.C407R

c.1219T>C