Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.Q167H

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.Q167H
c.501G>C
Surrounding Variants
1 paper
NM_000515.5
p.Q167H
c.501G>T
1 paper
NM_000515.5
p.Q167R
c.500A>G
1 paper
NM_000515.5
p.Q167*
c.499C>T
1 paper
NM_000515.5
p.K166del1
c.496_497delCTT
2 papers
NM_000515.5
p.K166N
c.498G>C
1 paper
NM_000515.5
p.K166R
c.497A>G
2 papers
NM_000515.5
p.Y169*
c.507C>G
1 paper
NM_000515.5
p.F165L
c.495C>A
1 paper
NM_000515.5
p.F165S
c.494T>C
1 paper
NM_000515.5
p.I164T
c.491T>C
2 papers
NM_000515.5
p.F172I
c.514T>A
1 paper
NM_000515.5
p.G162A
c.485G>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."