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.Y1719C

c.5156A>G

Surrounding Variants

1 paper

NM_015073.3

p.V1740L

c.5218G>C

1 paper

NM_015073.3

p.V1740L

c.5218G>T

1 paper

NM_015073.3

p.R1750W

c.5248C>T

1 paper

NM_015073.3

p.N1753K

c.5259C>A

1 paper

NM_015073.3

p.N1753K

c.5259C>G

1 paper

NM_015073.3

p.A1763T

c.5287G>A

1 paper

NM_015073.3

p.A1771A

c.5313G>A

1 paper

NM_015073.3

p.P1698L

c.5093C>T

1 paper

NM_015073.3

p.N1655N

c.4965C>T

1 paper

NM_015073.3

p.R1627Q

c.4880G>A