Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.S97_N98Splc

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
8 papers
NM_000515.5
p.S97_N98Splc
c.291+2T>C
Surrounding Variants
2 papers
NM_000515.5
p.S97_N98Splc
c.291+2T>G
4 papers
NM_000515.5
p.S97_N98Splc
c.291+2T>A
5 papers
NM_000515.5
p.S97_N98Splc
c.291+1G>T
8 papers
NM_000515.5
p.S97_N98Splc
c.291+1G>C
2 papers
NM_000515.5
p.S97_N98Splc
c.291+3G>C
18 papers
NM_000515.5
p.S97_N98Splc
c.291+1G>A
2 papers
NM_000515.5
p.S97_N98Splc
c.291+4A>T
2 papers
NM_000515.5
p.S97_N98Splc
c.291+4A>C
2 papers
NM_000515.5
p.S97_N98Splc
c.291+5G>C
6 papers
NM_000515.5
p.S97_N98Splc
c.291+5G>A
2 papers
NM_000515.5
p.S97F
c.290C>T
3 papers
NM_000515.5
p.S97_N98Splc
c.291+6T>G
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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."