Varaico: Literature-Extracted Genetic Variants

CREBBP

2,448 papers

RefSeq Summary

This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element...

Pfam Domains

zf-TAZaa 354–430UCSCTAZ zinc finger

KIXaa 587–667UCSCKIX domain

Bromodomainaa 1094–1180UCSCBromodomain

Gene Aliases

HGNC Name

CREB binding lysine acetyltransferase

HGNC Previous Symbol

RSTS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004380.3

p.S1980R

c.5940C>G

Surrounding Variants

1 paper

NM_004380.3

p.S1980R

c.5940C>A

1 paper

NM_004380.3

p.S1980R

c.5938A>C

1 paper

NM_004380.3

p.N1978K

c.5934C>G

1 paper

NM_004380.3

p.N1978K

c.5934C>A

28 papers

NM_004380.3

p.N1978S

c.5933A>G

3 papers

NM_004380.3

p.P1983fs

c.5947_5948fs

3 papers

NM_004380.3

p.N1978D

c.5932A>G

4 papers

NM_004380.3

p.P1983delFs

c.5948delG

1 paper

NM_004380.3

p.V1975_N1976del2

c.5923_5927del6

5 papers

NM_004380.3

p.R1985H

c.5954G>A

1 paper

NM_004380.3

p.V1975M

c.5923G>A

1 paper

NM_004380.3

p.T1986M

c.5957C>T