Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.L377insFs

NKX2-1

495 papers

RefSeq Summary

This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific ge...

Pfam Domains

Homeodomainaa 162–218UCSCHomeodomain
Homeodomainaa 162–218UCSCHomeodomain

Gene Aliases

HGNC Name

NK2 homeobox 1

HGNC Previous Symbols

NKX2A; BCH; TITF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079668.3
p.L377insFs
c.1130dupT
Surrounding Variants
1 paper
NM_001079668.3
p.S376R
c.1128C>G
1 paper
NM_001079668.3
p.S378fs
c.1132_1133fs
1 paper
NM_001079668.3
p.S376R
c.1128C>A
1 paper
NM_001079668.3
p.S376fs
c.1126_1127fs
1 paper
NM_001079668.3
p.S376R
c.1126A>C
2 papers
NM_001079668.3
p.S375insFs
c.1124_1125ins10
1 paper
NM_001079668.3
p.S375insFs
c.1124_1125ins7
1 paper
NM_001079668.3
p.Q373_V374delFs
c.1119_1122del4
1 paper
NM_001079668.3
p.V374delFs
c.1120delC
2 papers
NM_001079668.3
p.V374fs
c.1120_1121fs
1 paper
NM_001079668.3
p.Q373_V374insFs
c.1119_1120ins4
1 paper
NM_001079668.3
p.S382A
c.1144T>G
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