Varaico: Literature-Extracted Genetic Variants

SMTN

47 papers

RefSeq Summary

This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized t...

Pfam Domains

Smoothelinaa 73–97UCSCSmoothelin cytoskeleton protein

Smoothelinaa 129–178UCSCSmoothelin cytoskeleton protein

Smoothelinaa 626–675UCSCSmoothelin cytoskeleton protein

CHaa 799–907UCSCCalponin homology (CH) domain

CHaa 855–962UCSCCalponin homology (CH) domain

Gene Aliases

HGNC Name

smoothelin

Papers

RefSeq ID

Protein change

DNA change

1–12 of 50 variants

2 papers

NM_134269.3

p.G449S

c.1345G>A

2 papers

NM_134269.3

p.D830H

c.2488G>C

1 paper

NM_134269.3

p.A13V

c.38C>T

1 paper

NM_134269.3

p.R31del1

c.91_93delCGC

1 paper

NM_134269.3

p.Q40P

c.119A>C

1 paper

NM_134269.3

p.R53H

c.158G>A

1 paper

NM_134269.3

p.H67Y

c.199C>T

1 paper

NM_134269.3

p.L82L

c.244C>T

1 paper

NM_134269.3

p.D91_E93del3

c.271_278del9

1 paper

NM_134269.3

p.E124Q

c.370G>C

1 paper

NM_134269.3

p.H151N

c.451C>A

1 paper

NM_134269.3

p.A228A

c.684T>A