Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.Q94*

GH1

641 papers

RefSeq Summary

The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located ...

Pfam Domains

Hormone_1aa 9–215UCSCSomatotropin hormone family

Gene Aliases

HGNC Name

growth hormone 1

HGNC Alias Symbols

GH-N; GHN; hGH-N

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000515.5
p.Q94*
c.280C>T
Surrounding Variants
1 paper
NM_000515.5
p.Q94E
c.280C>G
1 paper
NM_000515.5
p.E92D
c.276A>T
1 paper
NM_000515.5
p.E92D
c.276A>C
2 papers
NM_000515.5
p.E92G
c.275A>G
1 paper
NM_000515.5
p.E92K
c.274G>A
2 papers
NM_000515.5
p.R90_Q95delFs
c.270_285del16
3 papers
NM_000515.5
p.E91V
c.272A>T
1 paper
NM_000515.5
p.E91insFs
c.271dupG
1 paper
NM_000515.5
p.E91*
c.271G>T
1 paper
NM_000515.5
p.R90S
c.270G>T
1 paper
NM_000515.5
p.R90S
c.270G>C
2 papers
NM_000515.5
p.S97F
c.290C>T
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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."