Varaico: Literature-Extracted Genetic Variants

Gene:ITPRID2
Variant:p.R972T

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.R972T
c.2915G>C
Surrounding Variants
1 paper
NM_001130445.3
p.D1002G
c.3005A>G
1 paper
NM_001130445.3
p.N1009H
c.3025A>C
1 paper
NM_001130445.3
p.R1012G
c.3034C>G
1 paper
NM_001130445.3
p.Q1016L
c.3047A>T
1 paper
NM_001130445.3
p.M1048_G1049Splc
c.3144+2T>C
1 paper
NM_001130445.3
p.P1064L
c.3191C>T
1 paper
NM_001130445.3
p.D919del1
c.2755_2756delGAT
1 paper
NM_001130445.3
p.C859Y
c.2576G>A
1 paper
NM_001130445.3
p.I849L
c.2545A>C
1 paper
NM_001130445.3
p.L846fs
c.2536_2537fs
1 paper
NM_001130445.3
p.C844*
c.2532T>A
2 papers
NM_001130445.3
p.P836L
c.2507C>T
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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."