Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.F57_E58Splc

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
3 papers
NM_000515.5
p.F57_E58Splc
c.172-1G>A
Surrounding Variants
6 papers
NM_000515.5
p.F57_E58Splc
c.172-1G>C
5 papers
NM_000515.5
p.E58*
c.172G>T
4 papers
NM_000515.5
p.E58K
c.172G>A
10 papers
NM_000515.5
p.F57_E58Splc
c.172-2A>T
1 paper
NM_000515.5
p.E58fs
c.172_173fs
1 paper
NM_000515.5
p.E58G
c.173A>G
5 papers
NM_000515.5
p.E58A
c.173A>C
1 paper
NM_000515.5
p.E59Q
c.175G>C
1 paper
NM_000515.5
p.E59V
c.176A>T
6 papers
NM_000515.5
p.E59G
c.176A>G
2 papers
NM_000515.5
p.E59A
c.176A>C
1 paper
NM_000515.5
p.E59D
c.177A>T
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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."