Varaico: Literature-Extracted Genetic Variants

Gene:CSHL1
Variant:p.E70D

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.E70D
c.210A>T
Surrounding Variants
1 paper
NM_022579.3
p.E70D
c.210A>C
1 paper
NM_022579.3
p.E70K
c.208G>A
1 paper
NM_022579.3
p.T68A
c.202A>G
1 paper
NM_022579.3
p.T68P
c.202A>C
1 paper
NM_022579.3
p.E64Splc
c.191-1G>A
1 paper
NM_022579.3
p.S82T
c.244T>A
2 papers
NM_022579.3
p.D87D
c.261C>T
1 paper
NM_022579.3
p.T98insFs
c.293_294insC
1 paper
NM_022579.3
p.S102_N103Splc
c.306+1G>A
1 paper
NM_022579.3
p.N103N
c.309C>T
1 paper
NM_022579.3
p.S110F
c.329C>T
1 paper
NM_022579.3
p.S110S
c.330C>T
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