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

3 papers

NM_015073.3

p.A283V

c.848C>T

Surrounding Variants

1 paper

NM_015073.3

p.R284Q

c.851G>A

1 paper

NM_015073.3

p.G259G

c.777G>A

2 papers

NM_015073.3

p.G315A

c.944G>C

1 paper

NM_015073.3

p.R316H

c.947G>A

1 paper

NM_015073.3

p.N223K

c.669C>A

1 paper

NM_015073.3

p.N223K

c.669C>G

1 paper

NM_015073.3

p.D220N

c.658G>A

1 paper

NM_015073.3

p.S217R

c.651C>A

1 paper

NM_015073.3

p.S217R

c.651C>G

1 paper

NM_015073.3

p.S217R

c.649A>C

1 paper

NM_015073.3

p.M213I

c.639G>A

1 paper

NM_015073.3

p.P214_F219delFs

c.640_656del17