Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.D142H

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.D142H
c.424G>C
Surrounding Variants
1 paper
NM_000515.5
p.D142Y
c.424G>T
1 paper
NM_000515.5
p.D142N
c.424G>A
1 paper
NM_000515.5
p.D142E
c.426C>G
1 paper
NM_000515.5
p.K141R
c.422A>G
1 paper
NM_000515.5
p.K141insFs
c.422_423insTT
1 paper
NM_000515.5
p.L143L
c.427C>T
5 papers
NM_000515.5
p.D142_L143delFs
c.424_427del4
1 paper
NM_000515.5
p.L143fs
c.427_428fs
1 paper
NM_000515.5
p.E145K
c.433G>A
6 papers
NM_000515.5
p.D138G
c.413A>G
1 paper
NM_000515.5
p.E145E
c.435A>G
1 paper
NM_000515.5
p.G146R
c.436G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."