Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.R103S

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.R103S
c.307C>A
Surrounding Variants
6 papers
NM_000515.5
p.R103C
c.307C>T
7 papers
NM_000515.5
p.R103H
c.308G>A
1 paper
NM_000515.5
p.L102_R103insFs
c.306_307insAG
1 paper
NM_000515.5
p.L102R
c.305T>G
3 papers
NM_000515.5
p.L102P
c.305T>C
1 paper
NM_000515.5
p.R103R
c.309C>T
3 papers
NM_000515.5
p.L102fs
c.304_305fs
1 paper
NM_000515.5
p.I104insFs
c.311_312insG
3 papers
NM_000515.5
p.L101L
c.301C>T
1 paper
NM_000515.5
p.S105Y
c.314C>A
1 paper
NM_000515.5
p.E100K
c.298G>A
1 paper
NM_000515.5
p.L106fs
c.316_317fs
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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."