Varaico: Literature-Extracted Genetic Variants

Gene:CSH2
Variant:p.R103C

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
1 paper
NM_020991.4
p.R103C
c.307C>T
Surrounding Variants
1 paper
NM_020991.4
p.R103L
c.308G>T
1 paper
NM_020991.4
p.R103R
c.309C>T
2 papers
NM_020991.4
p.L99P
c.296T>C
1 paper
NM_020991.4
p.L99L
c.295C>T
1 paper
NM_020991.4
p.N98I
c.293A>T
1 paper
NM_020991.4
p.S97_N98Splc
c.292-3C>T
1 paper
NM_020991.4
p.E110del1
c.328_329delCTC
1 paper
NM_020991.4
p.S111S
c.333G>A
1 paper
NM_020991.4
p.W112*
c.335G>A
1 paper
NM_020991.4
p.W112*
c.336G>A
1 paper
NM_020991.4
p.R117W
c.349C>T
1 paper
NM_020991.4
p.N125S
c.374A>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."