Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.A124A

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.A124A
c.372C>G
Surrounding Variants
1 paper
NM_000515.5
p.A124delFs
c.372delG
2 papers
NM_000515.5
p.N125S
c.374A>G
1 paper
NM_000515.5
p.N125delFs
c.373delT
1 paper
NM_000515.5
p.S126T
c.377G>C
1 paper
NM_000515.5
p.S126S
c.378C>T
7 papers
NM_000515.5
p.L127V
c.379C>G
1 paper
NM_000515.5
p.L127insFs
c.380_381insC
1 paper
NM_000515.5
p.S121delFs
c.363delA
2 papers
NM_000515.5
p.S121T
c.362G>C
1 paper
NM_000515.5
p.R120W
c.358A>T
2 papers
NM_000515.5
p.Y129C
c.386A>G
1 paper
NM_000515.5
p.Y129Y
c.387C>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."