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.A1088T

c.3262G>A

Surrounding Variants

1 paper

NM_015073.3

p.T1069I

c.3206C>T

1 paper

NM_015073.3

p.T1063M

c.3188C>T

3 papers

NM_015073.3

p.S1059L

c.3176C>T

1 paper

NM_015073.3

p.P1118P

c.3354C>T

1 paper

NM_015073.3

p.D1055E

c.3165C>A

1 paper

NM_015073.3

p.D1055E

c.3165C>G

1 paper

NM_015073.3

p.P1051P

c.3153G>A

1 paper

NM_015073.3

p.S1144L

c.3431C>T

1 paper

NM_015073.3

p.Q1156K

c.3466C>A

1 paper

NM_015073.3

p.S1175P

c.3523T>C