Varaico: Literature-Extracted Genetic Variants

Gene:CSH1
Variant:p.R6W

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.R6W
c.16C>T
Surrounding Variants
1 paper
NM_001317.6
p.S5F
c.14C>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
1 paper
NM_001317.6
p.P19_G25del0
c.55_75del21
1 paper
NM_001317.6
p.T29T
c.87C>A
1 paper
NM_001317.6
p.V30I
c.88G>A
1 paper
NM_001317.6
p.P31P
c.93C>G
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