Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-1
Variant:p.S383S

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.S383S
c.1149G>A
Surrounding Variants
1 paper
NM_001079668.3
p.G384delins
c.1150_1151delinsCC
1 paper
NM_003317.4
p.S352Y
c.1055C>A
1 paper
NM_001079668.3
p.S382A
c.1144T>G
2 papers
NM_001079668.3
p.N381delFs
c.1143delG
1 paper
NM_001079668.3
p.S385L
c.1154C>T
1 paper
NM_001079668.3
p.D386H
c.1156G>C
2 papers
NM_001079668.3
p.Y387*
c.1161C>G
2 papers
NM_001079668.3
p.Y387*
c.1161C>A
1 paper
NM_001079668.3
p.S378fs
c.1132_1133fs
1 paper
NM_001079668.3
p.L377insFs
c.1130dupT
1 paper
NM_003317.4
p.M360fs
c.1078_1079fs
1 paper
NM_003317.4
p.Y357_T359insFs
c.1071_1077dup7
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