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.K86E

c.256A>G

Surrounding Variants

1 paper

NM_020808.5

p.S81C

c.242C>G

1 paper

NM_020808.5

p.S81P

c.241T>C

1 paper

NM_020808.5

p.T94K

c.281C>A

1 paper

NM_020808.5

p.K73K

c.219G>A

1 paper

NM_020808.5

p.P69L

c.206C>T

1 paper

NM_020808.5

p.A65T

c.193G>A

1 paper

NM_020808.5

p.S112F

c.335C>T

1 paper

NM_020808.5

p.S112S

c.336T>C

1 paper

NM_020808.5

p.L114M

c.340C>A

2 papers

NM_020808.5

p.A53T

c.157G>A

2 papers

NM_020808.5

p.T49A

c.145A>G

1 paper

NM_020808.5

p.P47fs

c.139_140fs