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.G1656R

c.4966G>A

Surrounding Variants

1 paper

NM_020808.5

p.G1656R

c.4966G>C

1 paper

NM_020808.5

p.R1673Q

c.5018G>A

2 papers

NM_020808.5

p.E1641Q

c.4921G>C

3 papers

NM_020808.5

p.G1639S

c.4915G>A

1 paper

NM_020808.5

p.P1636Q

c.4907C>A

1 paper

NM_020808.5

p.H1601Y

c.4801C>T

2 papers

NM_020808.5

p.E1698K

c.5092G>A

1 paper

NM_020808.5

p.T1704K

c.5111C>A

2 papers

NM_020808.5

p.R1708Q

c.5123G>A

1 paper

NM_020808.5

p.D1719N

c.5155G>A

1 paper

NM_020808.5

p.D1719E

c.5157C>G

1 paper

NM_020808.5

p.D1719E

c.5157C>A