Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.D138G

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
6 papers
NM_000515.5
p.D138G
c.413A>G
Surrounding Variants
3 papers
NM_000515.5
p.V136V
c.408C>A
4 papers
NM_000515.5
p.V136F
c.406G>T
6 papers
NM_000515.5
p.V136I
c.406G>A
2 papers
NM_000515.5
p.N135delFs
c.404delT
1 paper
NM_000515.5
p.K141R
c.422A>G
1 paper
NM_000515.5
p.K141insFs
c.422_423insTT
2 papers
NM_000515.5
p.S134_N135insFs
c.402_403insC
1 paper
NM_000515.5
p.D142Y
c.424G>T
1 paper
NM_000515.5
p.D142H
c.424G>C
1 paper
NM_000515.5
p.D142N
c.424G>A
1 paper
NM_000515.5
p.S134R
c.402C>G
1 paper
NM_000515.5
p.S134R
c.402C>A
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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."