Varaico: Literature-Extracted Genetic Variants

Gene:ZNG1A
Variant:p.G81Splc

ZNG1A

26 papers

Pfam Domains

cobWaa 13–77UCSCCobW/HypB/UreG, nucleotide-binding domain
cobWaa 43–231UCSCCobW/HypB/UreG, nucleotide-binding domain
CobW_Caa 274–377UCSCCobalamin synthesis protein cobW C-terminal domain

Gene Aliases

HGNC Name

Zn regulated GTPase metalloprotein activator 1A

HGNC Previous Symbol

CBWD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018491.5
p.G81Splc
c.241+372A>T
Surrounding Variants
1 paper
NM_018491.5
p.G81Splc
c.241+371C>T
1 paper
NM_018491.5
p.G81Splc
c.241+364G>A
1 paper
NM_018491.5
p.G81Splc
c.241+411T>G
1 paper
NM_018491.5
p.G81Splc
c.241+198T>G
1 paper
NM_018491.5
p.G79E
c.236G>A
1 paper
NM_018491.5
p.L63_T64insFs
c.189_190insTG
1 paper
NM_018491.5
p.L63insFs
c.188_189insC
1 paper
NM_018491.5
p.L84insFs
c.251_252insA
1 paper
NM_018491.5
p.W100R
c.298T>C
1 paper
NM_018491.5
p.W100R
c.298T>A
6 papers
NM_018491.5
p.S115N
c.344G>A
1 paper
NM_018491.5
p.K127insFs
c.380_381insC
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