Varaico: Literature-Extracted Genetic Variants

Gene:ITPRID1

ITPRID1

57 papers

Pfam Domains

KRAP_IP3R_bindaa 114–258UCSCKi-ras-induced actin-interacting protein-IP3R-interacting domain
SSFA2_Caa 831–939UCSCSperm-specific antigen 2 C-terminus

Gene Aliases

HGNC Name

ITPR interacting domain containing 1

HGNC Previous Symbol

CCDC129

Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
2 papers
NM_001257967.3
p.N1032_C1033insFs
c.3096_3097insT
1 paper
NM_001257967.3
p.S9Y
c.26C>A
1 paper
NM_001257967.3
p.Q13Q
c.39G>A
1 paper
NM_001257967.3
p.P33P
c.99G>T
1 paper
NM_001257967.3
p.L49H
c.146T>A
1 paper
NM_001257967.3
p.E55E
c.165A>G
1 paper
NM_001257967.3
p.D56N
c.166G>A
1 paper
NM_001257967.3
p.R103T
c.308G>C
1 paper
NM_001257967.3
p.T126P
c.376A>C
1 paper
NM_001257967.3
p.P144S
c.430C>T
1 paper
NM_001257967.3
p.A155T
c.463G>A
1 paper
NM_001257967.3
p.F168L
c.502T>C
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