Varaico: Literature-Extracted Genetic Variants

Gene:GHDC

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
1–12 of 47 variants
4 papers
NM_032484.5
p.L13del1
c.37_38delCAG
3 papers
NM_032484.5
p.V443L
c.1327G>T
3 papers
NM_032484.5
p.R469C
c.1405C>T
1 paper
NM_032484.5
p.P14ins1
c.40_41insTGC
1 paper
NM_032484.5
p.T15A
c.43A>G
1 paper
NM_032484.5
p.W31C
c.93G>T
1 paper
NM_032484.5
p.W31C
c.93G>C
1 paper
NM_032484.5
p.V39M
c.115G>A
1 paper
NM_032484.5
p.V39fs
c.115_116fs
1 paper
NM_032484.5
p.V39delFs
c.116delA
1 paper
NM_032484.5
p.A40_W41insTGC
c.118_122ins9
1 paper
NM_032484.5
p.R38_A40del3
c.112_119del9
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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."