Varaico: Literature-Extracted Genetic Variants

Gene:CSHL1
Variant:p.S110S

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
Selected Variant
1 paper
NM_022579.3
p.S110S
c.330C>T
Surrounding Variants
1 paper
NM_022579.3
p.S110F
c.329C>T
1 paper
NM_022579.3
p.N103N
c.309C>T
1 paper
NM_022579.3
p.N131S
c.392A>G
1 paper
NM_022579.3
p.D140N
c.418G>A
1 paper
NM_022579.3
p.D141E
c.423C>G
1 paper
NM_022579.3
p.D141E
c.423C>A
1 paper
NM_022579.3
p.Y142N
c.424T>A
1 paper
NM_022579.3
p.L148P
c.443T>C
1 paper
NM_022579.3
p.S102_N103Splc
c.306+1G>A
1 paper
NM_022579.3
p.T98insFs
c.293_294insC
1 paper
NM_022579.3
p.M156insFs
c.467_468insT
1 paper
NM_022579.3
p.G157E
c.470G>A
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