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.P1412P

c.4236C>T

Surrounding Variants

1 paper

NM_015073.3

p.T1418fs

c.4252_4253fs

1 paper

NM_015073.3

p.P1424S

c.4270C>T

1 paper

NM_015073.3

p.R1452C

c.4354C>T

1 paper

NM_015073.3

p.R1468W

c.4402C>T

1 paper

NM_015073.3

p.R1468Q

c.4403G>A

1 paper

NM_015073.3

p.F1487F

c.4461T>C

2 papers

NM_015073.3

p.P1490L

c.4469C>T

5 papers

NM_015073.3

p.R1497*

c.4489C>T

1 paper

NM_015073.3

p.R1500Q

c.4499G>A