Varaico: Literature-Extracted Genetic Variants

Gene:GH2
Variant:p.S97_N98Splc

GH2

59 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 2

HGNC Alias Symbols

GH-V; GHV; GHL; hGH-V

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002059.5
p.S97_N98Splc
c.291+20C>T
Surrounding Variants
1 paper
NM_002059.5
p.K96E
c.286A>G
1 paper
NM_002059.5
p.Q94E
c.280C>G
2 papers
NM_002059.5
p.T93M
c.278C>T
3 papers
NM_002059.5
p.R90W
c.268A>T
1 paper
NM_002059.5
p.N89Y
c.265A>T
1 paper
NM_002059.5
p.N89D
c.265A>G
1 paper
NM_002059.5
p.P87L
c.260C>T
1 paper
NM_002059.5
p.P85P
c.255A>G
1 paper
NM_002059.5
p.E82D
c.246G>T
1 paper
NM_002059.5
p.E82D
c.246G>C
1 paper
NM_002059.5
p.E82A
c.245A>C
1 paper
NM_002059.5
p.R103C
c.307C>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."