Varaico: Literature-Extracted Genetic Variants

Gene:SMTNL1

SMTNL1

58 papers

RefSeq Summary

The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expressi...

Pfam Domains

CHaa 379–485UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

smoothelin like 1

HGNC Alias Symbol

CHASM

Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
2 papers
NM_001105565.3
p.R345G
c.1033C>G
1 paper
NM_001105565.3
p.K4N
c.12G>C
1 paper
NM_001105565.3
p.G39E
c.116G>A
1 paper
NM_001105565.3
p.K40K
c.120G>A
1 paper
NM_001105565.3
p.N43K
c.129T>A
1 paper
NM_001105565.3
p.N43K
c.129T>G
1 paper
NM_001105565.3
p.P47fs
c.139_140fs
1 paper
NM_001105565.3
p.Q67H
c.201G>C
1 paper
NM_001105565.3
p.Q67H
c.201G>T
1 paper
NM_001105565.3
p.K145*
c.433A>T
1 paper
NM_001105565.3
p.K172E
c.514A>G
1 paper
NM_001105565.3
p.T173A
c.517A>G
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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."