Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.E200K

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.E200K
c.598G>A
Surrounding Variants
1 paper
NM_000515.5
p.V199V
c.597C>G
1 paper
NM_000515.5
p.V199A
c.596T>C
1 paper
NM_000515.5
p.E200insFs
c.599_600insA
1 paper
NM_000515.5
p.V199I
c.595G>A
2 papers
NM_000515.5
p.T201S
c.601A>T
3 papers
NM_000515.5
p.T201A
c.601A>G
1 paper
NM_000515.5
p.K198N
c.594G>T
1 paper
NM_000515.5
p.K198N
c.594G>C
1 paper
NM_000515.5
p.T201R
c.602C>G
1 paper
NM_000515.5
p.F202L
c.604T>C
1 paper
NM_000515.5
p.F202L
c.606C>G
1 paper
NM_000515.5
p.F202L
c.606C>A
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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."