Varaico: Literature-Extracted Genetic Variants

Gene:SIPA1L1
Variant:p.E996D

SIPA1L1

102 papers

Pfam Domains

Rap-GAP_dimeraa 488–609UCSCRap/Ran-GAP protein dimerization domain
Rap_GAPaa 628–810UCSCRap/ran-GAP
PDZaa 953–1025UCSCPDZ domain
SPAR_Caa 1504–1749UCSCC-terminal domain of SPAR protein

Gene Aliases

HGNC Name

signal induced proliferation associated 1 like 1

HGNC Alias Symbols

KIAA0440; E6TP1; SPAR1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001386936.1
p.E996D
c.2988G>T
Surrounding Variants
1 paper
NM_001386936.1
p.E996D
c.2988G>C
1 paper
NM_001386936.1
p.R993H
c.2978G>A
2 papers
NM_001386936.1
p.R993C
c.2977C>T
1 paper
NM_001386936.1
p.A986V
c.2957C>T
1 paper
NM_001386936.1
p.G981S
c.2941G>A
1 paper
NM_001386936.1
p.T1019M
c.3056C>T
1 paper
NM_001386936.1
p.K1021E
c.3061A>G
1 paper
NM_001386936.1
p.P1026T
c.3076C>A
1 paper
NM_001386936.1
p.C1031R
c.3091T>C
1 paper
NM_001386936.1
p.I935M
c.2805C>G
1 paper
NM_001386936.1
p.F929L
c.2787T>A
1 paper
NM_001386936.1
p.F929L
c.2787T>G
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