Varaico: Literature-Extracted Genetic Variants

Gene:TAGLN
Variant:p.L30_E32delFs

TAGLN

62 papers

RefSeq Summary

This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an...

Pfam Domains

CHaa 24–139UCSCCalponin homology (CH) domain
Calponinaa 175–199UCSCCalponin family repeat

Gene Aliases

HGNC Name

transgelin

HGNC Alias Symbols

SM22; WS3-10; TAGLN1; SMCC; DKFZp686P11128; TGLN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003186.5
p.L30_E32delFs
c.88_94del7
Surrounding Variants
1 paper
NM_003186.5
p.R29W
c.85C>T
1 paper
NM_003186.5
p.R29Fs
c.85_87delinsTFs
1 paper
NM_003186.5
p.R29_L30delFs
c.85_88del4
1 paper
NM_003186.5
p.R29_L30delFs
c.87_88delGC
1 paper
NM_003186.5
p.R29R
c.87G>A
1 paper
NM_003186.5
p.R29_L30insFs
c.87_88insC
1 paper
NM_003186.5
p.L30delFs
c.89_90delTG
1 paper
NM_003186.5
p.E28_L30delFs
c.82_88del7
1 paper
NM_003186.5
p.L30delFs
c.90delG
1 paper
NM_003186.5
p.W33L
c.98G>T
1 paper
NM_003186.5
p.K20delFs
c.59_60delAG
1 paper
NM_003186.5
p.E19K
c.55G>A
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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."