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.F209L

c.627T>A

Surrounding Variants

1 paper

NM_020808.5

p.F209L

c.627T>G

1 paper

NM_020808.5

p.F209insFs

c.627dupT

1 paper

NM_020808.5

p.F209L

c.625T>C

1 paper

NM_020808.5

p.M211T

c.632T>C

1 paper

NM_020808.5

p.Y220*

c.660T>G

1 paper

NM_020808.5

p.Y220*

c.660T>A

1 paper

NM_020808.5

p.S196L

c.587C>T

1 paper

NM_020808.5

p.G193A

c.578G>C

1 paper

NM_020808.5

p.A186insFs

c.556_557insT

1 paper

NM_020808.5

p.R235H

c.704G>A

1 paper

NM_020808.5

p.S243fs

c.727_728fs

1 paper

NM_020808.5

p.I166I

c.498C>T