Varaico: Literature-Extracted Genetic Variants

Gene:CSH2
Variant:p.E200Fs

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.E200Fs
c.598_600delinsAAFs
Surrounding Variants
1 paper
NM_020991.4
p.E200G
c.599A>G
1 paper
NM_020991.4
p.F202S
c.605T>C
1 paper
NM_020991.4
p.L203L
c.609G>C
2 papers
NM_020991.4
p.R204C
c.610C>T
1 paper
NM_020991.4
p.K194N
c.582G>C
1 paper
NM_020991.4
p.R193S
c.579G>T
1 paper
NM_020991.4
p.R209H
c.626G>A
1 paper
NM_020991.4
p.V206_R209del0
c.618_626del9
1 paper
NM_020991.4
p.S210F
c.629C>T
1 paper
NM_020991.4
p.F202_V211del10
c.604_632del30
1 paper
NM_020991.4
p.G213G
c.639T>G
1 paper
NM_020991.4
p.D180D
c.540C>T
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