Varaico: Literature-Extracted Genetic Variants

Gene:CSH1
Variant:p.M196I

CSH1

98 papers

RefSeq Summary

The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromoso...

Pfam Domains

Hormone_1aa 9–215UCSCSomatotropin hormone family

Gene Aliases

HGNC Name

chorionic somatomammotropin hormone 1

HGNC Alias Symbols

hCS-A; CSA; PL; CSMT; FLJ75407

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001317.6
p.M196I
c.588G>A
Surrounding Variants
2 papers
NM_001317.6
p.K194N
c.582G>C
1 paper
NM_001317.6
p.R193S
c.579G>C
2 papers
NM_001317.6
p.E200Fs
c.598_600delinsAAFs
2 papers
NM_001317.6
p.F202S
c.605T>C
1 paper
NM_001317.6
p.L203P
c.608T>C
1 paper
NM_001317.6
p.Y190H
c.568T>C
1 paper
NM_001317.6
p.L188delFs
c.564delC
1 paper
NM_001317.6
p.G187E
c.560G>A
1 paper
NM_001317.6
p.G187R
c.559G>C
1 paper
NM_001317.6
p.G187R
c.559G>A
1 paper
NM_001317.6
p.Y186C
c.557A>G
1 paper
NM_001317.6
p.K184N
c.552G>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."