Varaico: Literature-Extracted Genetic Variants

Gene:CSH2
Variant:p.E58A

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.E58A
c.173A>C
Surrounding Variants
2 papers
NM_020991.4
p.F57_E58Splc
c.172-1G>T
1 paper
NM_020991.4
p.F57_E58Splc
c.172-2A>T
1 paper
NM_020991.4
p.Y61C
c.182A>G
2 papers
NM_020991.4
p.F70L
c.208T>C
2 papers
NM_020991.4
p.F70L
c.210C>G
2 papers
NM_020991.4
p.F70L
c.210C>A
1 paper
NM_020991.4
p.Y68_L71delFs
c.202_211del10
1 paper
NM_020991.4
p.S77_F78delFs
c.229_232del4
1 paper
NM_020991.4
p.S81L
c.242C>T
2 papers
NM_020991.4
p.S83P
c.247T>C
1 paper
NM_020991.4
p.P85P
c.255G>A
1 paper
NM_020991.4
p.P87P
c.261C>T
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