Varaico: Literature-Extracted Genetic Variants

Gene:CSH1
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
2 papers
NM_001317.6
p.M1R
c.2T>G
1 paper
NM_001317.6
p.M1I
c.3G>A
1 paper
NM_001317.6
p.A2A
c.6T>C
1 paper
NM_001317.6
p.S5F
c.14C>T
1 paper
NM_001317.6
p.R6W
c.16C>T
1 paper
NM_001317.6
p.T7R
c.20C>G
1 paper
NM_001317.6
p.A12T
c.34G>A
1 paper
NM_001317.6
p.A14insFs
c.40_41ins16
1 paper
NM_001317.6
p.L16V
c.46C>G
1 paper
NM_001317.6
p.C17S
c.49T>A
1 paper
NM_001317.6
p.C17S
c.50G>C
1 paper
NM_001317.6
p.W20*
c.60G>A
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."