Varaico: Literature-Extracted Genetic Variants

Gene:ITPRID1
Variant:p.W1022*

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
Selected Variant
1 paper
NM_001257967.3
p.W1022*
c.3066G>A
Surrounding Variants
1 paper
NM_001257967.3
p.W1022*
c.3065G>A
1 paper
NM_001257967.3
p.N1032Fs
c.3096delinsCTFs
2 papers
NM_001257967.3
p.N1032_C1033insFs
c.3096_3097insT
1 paper
NM_001257967.3
p.T1013A
c.3037A>G
1 paper
NM_001257967.3
p.G1036insFs
c.3106dupG
1 paper
NM_001257967.3
p.G1036delFs
c.3106delG
1 paper
NM_001257967.3
p.D1039N
c.3115G>A
1 paper
NM_001257967.3
p.G990D
c.2969G>A
1 paper
NM_001257967.3
p.D988N
c.2962G>A
1 paper
NM_001257967.3
p.A980P
c.2938G>C
1 paper
NM_001257967.3
p.S971L
c.2912C>T
1 paper
NM_001257967.3
p.Y960H
c.2878T>C
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