Varaico: Literature-Extracted Genetic Variants

Gene:CSH1
Variant:p.V206_R209del0

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.V206_R209del0
c.618_626del9
Surrounding Variants
1 paper
NM_001317.6
p.R209L
c.626G>T
1 paper
NM_001317.6
p.R209H
c.626G>A
1 paper
NM_001317.6
p.R209C
c.625C>T
1 paper
NM_001317.6
p.C208*
c.624C>A
1 paper
NM_001317.6
p.F202_V211del10
c.604_632del30
1 paper
NM_001317.6
p.L203P
c.608T>C
1 paper
NM_001317.6
p.G216V
c.647G>T
2 papers
NM_001317.6
p.F202S
c.605T>C
2 papers
NM_001317.6
p.E200Fs
c.598_600delinsAAFs
1 paper
NM_001317.6
p.M196I
c.588G>A
2 papers
NM_001317.6
p.K194N
c.582G>C
1 paper
NM_001317.6
p.R193S
c.579G>C
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