Varaico: Literature-Extracted Genetic Variants

Gene:CSH2
Variant:p.W20*

CSH2

144 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 2

HGNC Alias Symbols

hCS-B; CSB; CS-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020991.4
p.W20*
c.60G>A
Surrounding Variants
1 paper
NM_020991.4
p.L21P
c.62T>C
2 papers
NM_020991.4
p.L16V
c.46C>G
1 paper
NM_020991.4
p.A26D
c.77C>A
3 papers
NM_020991.4
p.V27I
c.79G>A
1 paper
NM_020991.4
p.F13S
c.38T>C
1 paper
NM_020991.4
p.Q28*
c.82C>T
1 paper
NM_020991.4
p.A12T
c.34G>A
1 paper
NM_020991.4
p.L11P
c.32T>C
1 paper
NM_020991.4
p.P31L
c.92C>T
1 paper
NM_020991.4
p.S33P
c.97T>C
1 paper
NM_020991.4
p.S8Y
c.23C>A
1 paper
NM_020991.4
p.T7R
c.20C>G
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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."