Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.S77delFs

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.S77delFs
c.230delG
Surrounding Variants
1 paper
NM_000515.5
p.C79S
c.235T>A
1 paper
NM_000515.5
p.C79S
c.236G>C
1 paper
NM_000515.5
p.C79fs
c.235_236fs
1 paper
NM_000515.5
p.S77A
c.229T>G
1 paper
NM_000515.5
p.P74_C79delFs
c.221_236del16
1 paper
NM_000515.5
p.Q75insFs
c.224_225insA
2 papers
NM_000515.5
p.Q75*
c.223C>T
1 paper
NM_000515.5
p.S81delFs
c.242_243delTG
2 papers
NM_000515.5
p.P74L
c.221C>T
1 paper
NM_000515.5
p.E82G
c.245A>G
3 papers
NM_000515.5
p.E82D
c.246G>T
3 papers
NM_000515.5
p.E82D
c.246G>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."