Varaico: Literature-Extracted Genetic Variants

Gene:ITPRID2
Variant:p.I849L

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.I849L
c.2545A>C
Surrounding Variants
1 paper
NM_001130445.3
p.L846fs
c.2536_2537fs
1 paper
NM_001130445.3
p.C844*
c.2532T>A
1 paper
NM_001130445.3
p.C859Y
c.2576G>A
2 papers
NM_001130445.3
p.P836L
c.2507C>T
1 paper
NM_001130445.3
p.R833W
c.2497C>T
1 paper
NM_001130445.3
p.E822K
c.2464G>A
1 paper
NM_001130445.3
p.A817V
c.2450C>T
1 paper
NM_001130445.3
p.D919del1
c.2755_2756delGAT
1 paper
NM_001130445.3
p.S767C
c.2299A>T
1 paper
NM_001130445.3
p.S752P
c.2254T>C
1 paper
NM_001130445.3
p.R736M
c.2207G>T
1 paper
NM_001130445.3
p.L726F
c.2178A>C
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