Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.D195E

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.D195E
c.585C>A
Surrounding Variants
1 paper
NM_000515.5
p.D195E
c.585C>G
1 paper
NM_000515.5
p.M196R
c.587T>G
1 paper
NM_000515.5
p.D195N
c.583G>A
2 papers
NM_000515.5
p.R193delFs
c.579delC
1 paper
NM_000515.5
p.C191_R193del0
c.573_578del6
1 paper
NM_000515.5
p.F192del1
c.574_576delGAA
1 paper
NM_000515.5
p.K198N
c.594G>T
1 paper
NM_000515.5
p.K198N
c.594G>C
1 paper
NM_000515.5
p.F192L
c.576C>A
1 paper
NM_000515.5
p.V199I
c.595G>A
1 paper
NM_000515.5
p.V199A
c.596T>C
1 paper
NM_000515.5
p.C191C
c.573C>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."