Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.V116M

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
2 papers
NM_000515.5
p.V116M
c.346G>A
Surrounding Variants
1 paper
NM_000515.5
p.V116L
c.346G>T
1 paper
NM_000515.5
p.V116L
c.346G>C
1 paper
NM_000515.5
p.P115P
c.345C>T
5 papers
NM_000515.5
p.P115L
c.344C>T
1 paper
NM_000515.5
p.Q117*
c.349C>T
1 paper
NM_000515.5
p.Q117L
c.350A>T
1 paper
NM_000515.5
p.Q117R
c.350A>G
1 paper
NM_000515.5
p.E114A
c.341A>C
1 paper
NM_000515.5
p.E114delFs
c.340delC
2 papers
NM_000515.5
p.F118L
c.352T>C
2 papers
NM_000515.5
p.V116_Q117del2
c.346_350del6
1 paper
NM_000515.5
p.E114Q
c.340G>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."