Varaico: Literature-Extracted Genetic Variants

AATF

76 papers

RefSeq Summary

The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a...

Pfam Domains

AATF-Che1aa 220–373UCSCApoptosis antagonizing transcription factor

TRAUBaa 464–548UCSCApoptosis-antagonizing transcription factor, C-terminal

Gene Aliases

HGNC Name

apoptosis antagonizing transcription factor

HGNC Alias Symbols

DED; CHE-1; CHE1; BFR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_012138.4

p.S415S

c.1245T>C

Surrounding Variants

1 paper

NM_012138.4

p.Y417H

c.1249T>C

1 paper

NM_012138.4

p.R408*

c.1222C>T

1 paper

NM_012138.4

p.R405S

c.1215A>C

2 papers

NM_012138.4

p.P431L

c.1292C>T

1 paper

NM_012138.4

p.G436R

c.1306G>A

1 paper

NM_012138.4

p.G436R

c.1306G>C

1 paper

NM_012138.4

p.T394S

c.1181C>G

1 paper

NM_012138.4

p.T366A

c.1096A>G

3 papers

NM_012138.4

p.R365C

c.1093C>T

1 paper

NM_012138.4

p.R336insFs

c.1007_1008insC

1 paper

NM_012138.4

p.R334*

c.1000C>T

1 paper

NM_012138.4

p.D324Y

c.970G>T