Varaico: Literature-Extracted Genetic Variants

Gene:GSC2
Variant:p.G203R

GSC2

14 papers

RefSeq Summary

Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal hea...

Pfam Domains

Homeodomainaa 127–183UCSCHomeodomain

Gene Aliases

HGNC Name

goosecoid homeobox 2

HGNC Previous Symbol

GSCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005315.2
p.G203R
c.607G>A
Surrounding Variants
1 paper
NM_005315.2
p.G203R
c.607G>C
1 paper
NM_005315.2
p.A187V
c.560C>T
1 paper
NM_005315.2
p.E171_V172Splc
c.513+1G>A
1 paper
NM_005315.2
p.E168K
c.502G>A
1 paper
NM_005315.2
p.R164H
c.491G>A
1 paper
NM_005315.2
p.R164C
c.490C>T
1 paper
NM_005315.2
p.D152A
c.455A>C
1 paper
NM_005315.2
p.A62T
c.184G>A
1 paper
NM_005315.2
p.R47C
c.139C>T
1 paper
NM_005315.2
p.G15W
c.43G>T
1 paper
NM_005315.2
p.A4insFs
c.11dupC
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