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.T1117S

c.3349A>T

Surrounding Variants

1 paper

NM_020808.5

p.D1115N

c.3343G>A

1 paper

NM_020808.5

p.R1111W

c.3331C>T

1 paper

NM_020808.5

p.F1109F

c.3327C>T

1 paper

NM_020808.5

p.I1103F

c.3307A>T

1 paper

NM_020808.5

p.A1101S

c.3301G>T

1 paper

NM_020808.5

p.A1099V

c.3296C>T

3 papers

NM_020808.5

p.D1088N

c.3262G>A

1 paper

NM_020808.5

p.P1087S

c.3259C>T

1 paper

NM_020808.5

p.T1064T

c.3192C>T

1 paper

NM_020808.5

p.S1049T

c.3146G>C

1 paper

NM_020808.5

p.D1048N

c.3142G>A

2 papers

NM_020808.5

p.V1043M

c.3127G>A