Varaico: Literature-Extracted Genetic Variants

Gene:IMPACT
Variant:p.L272L

IMPACT

397 papers

Pfam Domains

RWDaa 10–113UCSCRWD domain
Impact_Naa 182–289UCSCImpact N-terminal domain

Gene Aliases

HGNC Name

impact RWD domain protein

HGNC Alias Symbol

RWDD5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018439.4
p.L272L
c.814C>T
Surrounding Variants
1 paper
NM_018439.4
p.G274E
c.821G>A
1 paper
NM_018439.4
p.G269_R277del9
c.805_830del27
1 paper
NM_018439.4
p.R277insFs
c.830_831insA
1 paper
NM_018439.4
p.S265*
c.794C>A
1 paper
NM_018439.4
p.S265*
c.794C>G
1 paper
NM_018439.4
p.C284_A285delFs
c.851_854del4
1 paper
NM_018439.4
p.C284_A285delFs
c.852_855del4
1 paper
NM_018439.4
p.N259D
c.775A>G
1 paper
NM_018439.4
p.V257fs
c.769_770fs
1 paper
NM_018439.4
p.S297*
c.890C>A
1 paper
NM_018439.4
p.S297*
c.890C>G
1 paper
NM_018439.4
p.E300K
c.898G>A
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