Varaico: Literature-Extracted Genetic Variants

Gene:GHDC
Variant:p.Y349*

GHDC

42 papers

Pfam Domains

GH3_N_vertaa 213–278UCSCVertebrate GH3, N-terminal domain
GH3_Maa 312–385UCSCGH3 family central domain
GH3_Caa 402–504UCSCGH3 family C-terminal domain

Gene Aliases

HGNC Name

GH3 domain containing

HGNC Alias Symbol

LGP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032484.5
p.Y349*
c.1047T>G
Surrounding Variants
1 paper
NM_032484.5
p.Y349*
c.1047T>A
1 paper
NM_032484.5
p.D355D
c.1065C>T
1 paper
NM_032484.5
p.L359F
c.1075C>T
1 paper
NM_032484.5
p.E322K
c.964G>A
1 paper
NM_032484.5
p.F320S
c.959T>C
1 paper
NM_032484.5
p.V379G
c.1136T>G
1 paper
NM_032484.5
p.I397T
c.1190T>C
1 paper
NM_032484.5
p.Q412K
c.1234C>A
1 paper
NM_032484.5
p.D430Splc
c.1289-51G>T
3 papers
NM_032484.5
p.V443L
c.1327G>T
1 paper
NM_032484.5
p.V443L
c.1327G>C
1 paper
NM_032484.5
p.R449T
c.1346G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."