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

1–12 of 189 variants

4 papers

NM_020808.5

p.T1322A

c.3964A>G

4 papers

NM_020808.5

p.S1482L

c.4445C>T

3 papers

NM_020808.5

p.D1088N

c.3262G>A

3 papers

NM_020808.5

p.G1639S

c.4915G>A

2 papers

NM_020808.5

p.T49A

c.145A>G

2 papers

NM_020808.5

p.A53T

c.157G>A

2 papers

NM_020808.5

p.R293Q

c.878G>A

2 papers

NM_020808.5

p.Q618E

c.1852C>G

2 papers

NM_020808.5

p.T666T

c.1998G>A

2 papers

NM_020808.5

p.P714S

c.2140C>T

2 papers

NM_020808.5

p.G875R

c.2623G>C

2 papers

NM_020808.5

p.G875R

c.2623G>A