Varaico: Literature-Extracted Genetic Variants

NCOA2

302 papers

RefSeq Summary

The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an...

Pfam Domains

bHLH_NCOAaa 1–80UCSCNuclear receptor coactivators bHLH domain

PASaa 115–214UCSCPAS fold

PAS_11aa 267–379UCSCPAS domain

Gene Aliases

HGNC Name

nuclear receptor coactivator 2

HGNC Alias Symbols

TIF2; NCoA-2; KAT13C; bHLHe75

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006540.4

p.R338L

c.1013G>T

Surrounding Variants

1 paper

NM_006540.4

p.Y337S

c.1010A>C

1 paper

NM_006540.4

p.Q335Fs

c.1003delinsGAFs

1 paper

NM_006540.4

p.Q335fs

c.1003_1004fs

1 paper

NM_006540.4

p.G344D

c.1031G>A

1 paper

NM_006540.4

p.L346F

c.1036C>T

1 paper

NM_006540.4

p.L346I

c.1036C>A

1 paper

NM_006540.4

p.L346R

c.1037T>G

1 paper

NM_006540.4

p.T351M

c.1052C>T

1 paper

NM_006540.4

p.I356F

c.1066A>T

1 paper

NM_006540.4

p.R357C

c.1069C>T

1 paper

NM_006540.4

p.P364L

c.1091C>T

1 paper

NM_006540.4

p.M372T

c.1115T>C