Varaico: Literature-Extracted Genetic Variants

Gene:ITPRIPL1
Variant:p.Q43*

ITPRIPL1

30 papers

Pfam Domains

Mab-21_Caa 418–503UCSCMab-21 protein HhH/H2TH-like domain

Gene Aliases

HGNC Name

ITPRIP like 1

HGNC Previous Symbol

KIAA1754L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001008949.3
p.Q43*
c.127C>T
Surrounding Variants
1 paper
NM_001008949.3
p.E45K
c.133G>A
1 paper
NM_001008949.3
p.R40W
c.118A>T
2 papers
NM_001008949.3
p.R47*
c.139C>T
1 paper
NM_001008949.3
p.L35M
c.103C>A
1 paper
NM_001008949.3
p.L55L
c.163C>T
1 paper
NM_001008949.3
p.S30N
c.89G>A
1 paper
NM_001008949.3
p.E61E
c.183G>A
1 paper
NM_001008949.3
p.A65A
c.195C>A
1 paper
NM_001008949.3
p.A66T
c.196G>A
1 paper
NM_001008949.3
p.A66A
c.198T>A
1 paper
NM_001008949.3
p.G106D
c.317G>A
1 paper
NM_001008949.3
p.L117_F121del0
c.350_361del12
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