Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.I62T

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.I62T
c.185T>C
Surrounding Variants
1 paper
NM_000515.5
p.I62insFs
c.185_186insG
1 paper
NM_000515.5
p.I62insFs
c.185_186insA
1 paper
NM_000515.5
p.I62S
c.185T>G
1 paper
NM_000515.5
p.I62N
c.185T>A
1 paper
NM_000515.5
p.I62I
c.186C>T
1 paper
NM_000515.5
p.P63T
c.187C>A
2 papers
NM_000515.5
p.Y61N
c.181T>A
1 paper
NM_000515.5
p.A60delFs
c.180delG
1 paper
NM_000515.5
p.A60_Y61insFs
c.180_181ins4
1 paper
NM_000515.5
p.A60V
c.179C>T
3 papers
NM_000515.5
p.A60T
c.178G>A
1 paper
NM_000515.5
p.K64K
c.192G>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."