Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.E21E

NKX2-5

497 papers

RefSeq Summary

This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventri...

Pfam Domains

Homeodomainaa 139–195UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 5

HGNC Previous Symbols

CSX; NKX2E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
55 papers
NM_004387.4
p.E21E
c.63A>G
Surrounding Variants
2 papers
NM_004387.4
p.E21D
c.63A>T
1 paper
NM_004387.4
p.E21D
c.63A>C
1 paper
NM_004387.4
p.Q22*
c.64C>T
7 papers
NM_004387.4
p.Q22K
c.64C>A
3 papers
NM_004387.4
p.E21*
c.61G>T
26 papers
NM_004387.4
p.E21Q
c.61G>C
11 papers
NM_004387.4
p.Q22R
c.65A>G
12 papers
NM_004387.4
p.Q22P
c.65A>C
1 paper
NM_004387.4
p.L20L
c.60G>A
7 papers
NM_004387.4
p.N19S
c.56A>G
1 paper
NM_004387.4
p.N19Y
c.55A>T
6 papers
NM_004387.4
p.N19D
c.55A>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."