Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.E65A

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.E65A
c.194A>C
Surrounding Variants
1 paper
NM_000515.5
p.E65V
c.194A>T
1 paper
NM_000515.5
p.E65D
c.195A>T
1 paper
NM_000515.5
p.E65D
c.195A>C
1 paper
NM_000515.5
p.K64K
c.192G>A
1 paper
NM_000515.5
p.Q66*
c.196C>T
1 paper
NM_000515.5
p.Q66H
c.198G>T
1 paper
NM_000515.5
p.Q66H
c.198G>C
3 papers
NM_000515.5
p.K67*
c.199A>T
5 papers
NM_000515.5
p.K67R
c.200A>G
1 paper
NM_000515.5
p.P63T
c.187C>A
1 paper
NM_000515.5
p.I62I
c.186C>T
1 paper
NM_000515.5
p.I62insFs
c.185_186insG
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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."