Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.Q72*

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.Q72*
c.214C>T
Surrounding Variants
1 paper
NM_000515.5
p.N73D
c.217A>G
1 paper
NM_000515.5
p.F70L
c.210C>A
1 paper
NM_000515.5
p.N73insFs
c.218_219insT
2 papers
NM_000515.5
p.P74L
c.221C>T
1 paper
NM_000515.5
p.S69S
c.207A>C
1 paper
NM_000515.5
p.S69delFs
c.206delG
2 papers
NM_000515.5
p.Q75*
c.223C>T
1 paper
NM_000515.5
p.Q75insFs
c.224_225insA
5 papers
NM_000515.5
p.K67R
c.200A>G
1 paper
NM_000515.5
p.S77A
c.229T>G
3 papers
NM_000515.5
p.K67*
c.199A>T
1 paper
NM_000515.5
p.Q66H
c.198G>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."