Varaico: Literature-Extracted Genetic Variants

Gene:CSH1
Variant:p.I164T

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.I164T
c.491T>C
Surrounding Variants
1 paper
NM_001317.6
p.Q167E
c.499C>G
1 paper
NM_001317.6
p.R159H
c.476G>A
1 paper
NM_001317.6
p.D156V
c.467A>T
1 paper
NM_001317.6
p.N175D
c.523A>G
1 paper
NM_001317.6
p.G152_R153Splc
c.457-2A>G
1 paper
NM_001317.6
p.K184N
c.552G>T
1 paper
NM_001317.6
p.K184N
c.552G>C
1 paper
NM_001317.6
p.Y186C
c.557A>G
1 paper
NM_001317.6
p.G187R
c.559G>C
1 paper
NM_001317.6
p.G187R
c.559G>A
1 paper
NM_001317.6
p.G187E
c.560G>A
1 paper
NM_001317.6
p.L188delFs
c.564delC
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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."