Varaico: Literature-Extracted Genetic Variants

Gene:TAGLN2
Variant:p.N51D

TAGLN2

30 papers

RefSeq Summary

The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been dete...

Pfam Domains

CHaa 24–138UCSCCalponin homology (CH) domain
Calponinaa 174–198UCSCCalponin family repeat

Gene Aliases

HGNC Name

transgelin 2

HGNC Alias Symbols

KIAA0120; HA1756

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003564.3
p.N51D
c.151A>G
Surrounding Variants
1 paper
NM_003564.3
p.G48R
c.142G>A
6 papers
NM_003564.3
p.Q46L
c.137A>T
1 paper
NM_003564.3
p.R44W
c.130C>T
1 paper
NM_003564.3
p.D58E
c.174T>A
1 paper
NM_003564.3
p.T60M
c.179C>T
1 paper
NM_003564.3
p.T60_V61Splc
c.180+1G>A
1 paper
NM_003564.3
p.A24V
c.71C>T
1 paper
NM_003564.3
p.K17K
c.51G>A
1 paper
NM_003564.3
p.E13K
c.37G>A
1 paper
NM_003564.3
p.Y8F
c.23A>T
1 paper
NM_003564.3
p.M1T
c.2T>C
1 paper
NM_003564.3
p.N67I
c.200A>T
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