Varaico: Literature-Extracted Genetic Variants

Gene:ITPRID2

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
1–12 of 108 variants
4 papers
NM_001130445.3
p.D587N
c.1759G>A
2 papers
NM_001130445.3
p.A36G
c.107C>G
2 papers
NM_001130445.3
p.P450S
c.1348C>T
2 papers
NM_001130445.3
p.T475T
c.1425G>A
2 papers
NM_001130445.3
p.P836L
c.2507C>T
2 papers
NM_001130445.3
p.T1168S
c.3502A>T
2 papers
NM_001130445.3
p.P1202S
c.3604C>T
1 paper
NM_001130445.3
p.A11T
c.31G>A
1 paper
NM_001130445.3
p.W17_Q18delFs
c.49_53del5
1 paper
NM_001130445.3
p.R22C
c.64C>T
1 paper
NM_001130445.3
p.S37A
c.109T>G
1 paper
NM_001130445.3
p.E40A
c.119A>C
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