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.S217R

c.649A>C

Surrounding Variants

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.D220N

c.658G>A

1 paper

NM_015073.3

p.M213I

c.639G>A

1 paper

NM_015073.3

p.P214_F219delFs

c.640_656del17

1 paper

NM_015073.3

p.Q211L

c.632A>T

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.S206P

c.616T>C

1 paper

NM_015073.3

p.E201K

c.601G>A

1 paper

NM_015073.3

p.R200H

c.599G>A

1 paper

NM_015073.3

p.A195V

c.584C>T