Varaico: Literature-Extracted Genetic Variants

Gene:RIBC2
Variant:p.V274A

RIBC2

13 papers

Pfam Domains

RIB43Aaa 12–382UCSCRIB43A

Gene Aliases

HGNC Name

RIB43A domain with coiled-coils 2

HGNC Previous Symbol

C22orf11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015653.5
p.V274A
c.821T>C
Surrounding Variants
1 paper
NM_015653.5
p.V274D
c.821T>A
1 paper
NM_015653.5
p.L256L
c.766C>T
1 paper
NM_015653.5
p.Q295delFs
c.885delG
1 paper
NM_015653.5
p.R253C
c.757C>T
1 paper
NM_015653.5
p.L251fs
c.751_752fs
1 paper
NM_015653.5
p.Q239H
c.717A>T
1 paper
NM_015653.5
p.K238fs
c.712_713fs
1 paper
NM_015653.5
p.T190_E191insC
c.568_572ins3
1 paper
NM_015653.5
p.Y373H
c.1117T>C
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