Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.S132T

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.S132T
c.394T>A
Surrounding Variants
1 paper
NM_000515.5
p.G130G
c.390C>G
1 paper
NM_000515.5
p.D133V
c.398A>T
1 paper
NM_000515.5
p.G130R
c.388G>C
1 paper
NM_000515.5
p.G130S
c.388G>A
1 paper
NM_000515.5
p.S134C
c.400A>T
1 paper
NM_000515.5
p.S134R
c.400A>C
1 paper
NM_000515.5
p.Y129Y
c.387C>T
1 paper
NM_000515.5
p.S134R
c.402C>G
1 paper
NM_000515.5
p.S134R
c.402C>A
2 papers
NM_000515.5
p.Y129C
c.386A>G
2 papers
NM_000515.5
p.S134_N135insFs
c.402_403insC
2 papers
NM_000515.5
p.N135delFs
c.404delT
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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."