Varaico: Literature-Extracted Genetic Variants

Gene:ITPRID2
Variant:p.E414Q

ITPRID2

94 papers

Pfam Domains

KRAP_IP3R_bindaa 148–300UCSCKi-ras-induced actin-interacting protein-IP3R-interacting domain
SSFA2_Caa 864–1033UCSCSperm-specific antigen 2 C-terminus

Gene Aliases

HGNC Name

ITPR interacting domain containing 2

HGNC Previous Symbol

SSFA2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130445.3
p.E414Q
c.1240G>C
Surrounding Variants
1 paper
NM_001130445.3
p.V413L
c.1237G>C
1 paper
NM_001130445.3
p.L406_E408del3
c.1216_1223del9
1 paper
NM_001130445.3
p.E428D
c.1284G>T
1 paper
NM_001130445.3
p.E434K
c.1300G>A
2 papers
NM_001130445.3
p.P450S
c.1348C>T
1 paper
NM_001130445.3
p.D375H
c.1123G>C
1 paper
NM_001130445.3
p.P454Q
c.1361C>A
1 paper
NM_001130445.3
p.E372D
c.1116G>C
1 paper
NM_001130445.3
p.E372D
c.1116G>T
1 paper
NM_001130445.3
p.I456V
c.1366A>G
1 paper
NM_001130445.3
p.T371M
c.1112C>T
1 paper
NM_001130445.3
p.N458K
c.1374T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."