Varaico: Literature-Extracted Genetic Variants

Gene:CSHL1

CSHL1

64 papers

RefSeq Summary

The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located ...

Pfam Domains

Hormone_1aa 22–158UCSCSomatotropin hormone family

Gene Aliases

HGNC Name

chorionic somatomammotropin hormone like 1

HGNC Previous Symbol

CSHP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
2 papers
NM_022579.3
p.D87D
c.261C>T
1 paper
NM_022579.3
p.A3T
c.7G>A
1 paper
NM_022579.3
p.A3G
c.8C>G
1 paper
NM_022579.3
p.R6R
c.16C>A
1 paper
NM_022579.3
p.A12A
c.36T>A
1 paper
NM_022579.3
p.L15Q
c.44T>A
1 paper
NM_022579.3
p.L16P
c.47T>C
1 paper
NM_022579.3
p.W20*
c.60G>A
1 paper
NM_022579.3
p.L21H
c.62T>A
1 paper
NM_022579.3
p.L21L
c.63T>A
1 paper
NM_022579.3
p.V30I
c.88G>A
1 paper
NM_022579.3
p.R34W
c.100A>T
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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."