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.T1322A

c.3964A>G

Surrounding Variants

1 paper

NM_020808.5

p.S1327C

c.3979A>T

1 paper

NM_020808.5

p.D1299N

c.3895G>A

1 paper

NM_020808.5

p.Q1296L

c.3887A>T

1 paper

NM_020808.5

p.D1264G

c.3791A>G

1 paper

NM_020808.5

p.D1264N

c.3790G>A

1 paper

NM_020808.5

p.T1228T

c.3684G>A

1 paper

NM_020808.5

p.W1183R

c.3547T>C

1 paper

NM_020808.5

p.W1183R

c.3547T>A

2 papers

NM_020808.5

p.R1167G

c.3499A>G

1 paper

NM_020808.5

p.C1163Y

c.3488G>A

1 paper

NM_020808.5

p.G1146R

c.3436G>C

1 paper

NM_020808.5

p.G1146R

c.3436G>A