Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.G152_R153Splc

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
4 papers
NM_000515.5
p.G152_R153Splc
c.456+5G>C
Surrounding Variants
6 papers
NM_000515.5
p.G152_R153Splc
c.456+1G>T
5 papers
NM_000515.5
p.G152_R153Splc
c.456+1G>C
2 papers
NM_000515.5
p.G152_R153Splc
c.456+1G>A
5 papers
NM_000515.5
p.G152G
c.456G>A
1 paper
NM_000515.5
p.T149T
c.447G>A
1 paper
NM_000515.5
p.T149M
c.446C>T
1 paper
NM_000515.5
p.T149K
c.446C>A
1 paper
NM_000515.5
p.T149A
c.445A>G
1 paper
NM_000515.5
p.Q148P
c.443A>C
1 paper
NM_000515.5
p.Q148*
c.442C>T
2 papers
NM_000515.5
p.G146V
c.437G>T
1 paper
NM_000515.5
p.G146A
c.437G>C
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