Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.R209H

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
17 papers
NM_000515.5
p.R209H
c.626G>A
Surrounding Variants
1 paper
NM_000515.5
p.R209L
c.626G>T
3 papers
NM_000515.5
p.C208*
c.624C>A
1 paper
NM_000515.5
p.S210F
c.629C>T
1 paper
NM_000515.5
p.S210C
c.629C>G
2 papers
NM_000515.5
p.E212Q
c.634G>C
2 papers
NM_000515.5
p.V206M
c.616G>A
1 paper
NM_000515.5
p.G213S
c.637G>A
6 papers
NM_000515.5
p.I205M
c.615C>G
4 papers
NM_000515.5
p.R204H
c.611G>A
1 paper
NM_000515.5
p.S214N
c.641G>A
1 paper
NM_000515.5
p.C215G
c.643T>G
1 paper
NM_000515.5
p.L203P
c.608T>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."