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

4 papers

NM_020808.5

p.S1482L

c.4445C>T

Surrounding Variants

1 paper

NM_020808.5

p.S1482W

c.4445C>G

1 paper

NM_020808.5

p.S1499T

c.4495T>A

1 paper

NM_020808.5

p.V1508M

c.4522G>A

1 paper

NM_020808.5

p.A1512V

c.4535C>T

1 paper

NM_020808.5

p.P1523P

c.4569A>G

1 paper

NM_020808.5

p.A1536T

c.4606G>A

1 paper

NM_020808.5

p.G1540R

c.4618G>C

1 paper

NM_020808.5

p.G1540R

c.4618G>A

1 paper

NM_020808.5

p.S1541C

c.4621A>T

2 papers

NM_020808.5

p.R1469G

c.4405A>G

1 paper

NM_020808.5

p.D1460fs

c.4378_4379fs

1 paper

NM_020808.5

p.D1460delFs

c.4379delT