Varaico: Literature-Extracted Genetic Variants

Gene:GH2
Variant:p.L143I

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.L143I
c.427C>A
Surrounding Variants
1 paper
NM_002059.5
p.D142N
c.424G>A
1 paper
NM_002059.5
p.I147M
c.441C>G
1 paper
NM_002059.5
p.V136F
c.406G>T
1 paper
NM_002059.5
p.N125S
c.374A>G
1 paper
NM_002059.5
p.V122I
c.364G>A
1 paper
NM_002059.5
p.R120fs
c.358_359fs
1 paper
NM_002059.5
p.V116_L118del0
c.346_354del9
1 paper
NM_002059.5
p.P115S
c.343C>T
1 paper
NM_002059.5
p.S111*
c.332C>G
1 paper
NM_002059.5
p.S111*
c.332C>A
1 paper
NM_002059.5
p.R103R
c.309C>T
1 paper
NM_002059.5
p.R103H
c.308G>A
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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."