Varaico: Literature-Extracted Genetic Variants

Gene:NR2F2
Variant:p.Y348S

NR2F2

162 papers

RefSeq Summary

This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many di...

Pfam Domains

zf-C4aa 77–146UCSCDouble treble clef zinc finger, C4 type
zf-C4aa 77–146UCSCDouble treble clef zinc finger, C4 type
Hormone_recepaa 197–387UCSCLigand-binding domain of nuclear hormone receptor

Gene Aliases

HGNC Name

nuclear receptor subfamily 2 group F member 2

HGNC Previous Symbols

ARP1; TFCOUP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021005.4
p.Y348S
c.1043A>C
Surrounding Variants
1 paper
NM_021005.4
p.Y348*
c.1044C>A
1 paper
NM_021005.4
p.Y348*
c.1044C>G
2 papers
NM_021005.4
p.Y348_R350delFs
c.1044_1048del5
1 paper
NM_021005.4
p.A344V
c.1031C>T
6 papers
NM_021005.4
p.S341Y
c.1022C>A
1 paper
NM_021005.4
p.K340fs
c.1018_1019fs
1 paper
NM_021005.4
p.K340delFs
c.1019delA
1 paper
NM_021005.4
p.Q338P
c.1013A>C
1 paper
NM_021005.4
p.G361G
c.1083A>T
1 paper
NM_021005.4
p.L364delFs
c.1091delT
1 paper
NM_021005.4
p.L364fs
c.1090_1091fs
2 papers
NM_021005.4
p.R366C
c.1096C>T
NM_001145156.1
p.R213C
c.637C>T
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