Varaico: Literature-Extracted Genetic Variants

SIPA1L2

153 papers

RefSeq Summary

This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain wit...

Pfam Domains

Rap-GAP_dimeraa 483–558UCSCRap/Ran-GAP protein dimerization domain

Rap_GAPaa 624–806UCSCRap/ran-GAP

PDZaa 950–1022UCSCPDZ domain

SPAR_Caa 1420–1648UCSCC-terminal domain of SPAR protein

Gene Aliases

HGNC Name

signal induced proliferation associated 1 like 2

HGNC Alias Symbols

KIAA1389; SPAR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020808.5

p.V509I

c.1525G>A

Surrounding Variants

1 paper

NM_020808.5

p.V518A

c.1553T>C

1 paper

NM_020808.5

p.R583*

c.1747C>T

1 paper

NM_020808.5

p.K590*

c.1768A>T

1 paper

NM_020808.5

p.G602R

c.1804G>C

1 paper

NM_020808.5

p.G602R

c.1804G>A

1 paper

NM_020808.5

p.E495Splc

c.1484-4956G>T

2 papers

NM_020808.5

p.Q618E

c.1852C>G

1 paper

NM_020808.5

p.E621Q

c.1861G>C

1 paper

NM_020808.5

p.T629M

c.1886C>T

1 paper

NM_020808.5

p.P632Q

c.1895C>A