Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.A2T

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.A2T
c.4G>A
Surrounding Variants
1 paper
NM_000515.5
p.A2S
c.4G>T
1 paper
NM_000515.5
p.A2P
c.4G>C
1 paper
NM_000515.5
p.M1I
c.3G>T
1 paper
NM_000515.5
p.M1insFs
c.2dupT
1 paper
NM_000515.5
p.M1_A2insFs
c.3_4ins4
1 paper
NM_000515.5
p.M1I
c.3G>C
3 papers
NM_000515.5
p.M1I
c.3G>A
1 paper
NM_000515.5
p.A2delFs
c.4delC
1 paper
NM_000515.5
p.M1R
c.2T>G
2 papers
NM_000515.5
p.M1T
c.2T>C
1 paper
NM_000515.5
p.A2A
c.6T>C
1 paper
NM_000515.5
p.M1_A2delFs
c.1_5del5
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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."