Varaico: Literature-Extracted Genetic Variants

KLF12

58 papers

RefSeq Summary

Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein enco...

Pfam Domains

zf-C2H2aa 317–341UCSCZinc finger, C2H2 type

zf-C2H2aa 347–371UCSCZinc finger, C2H2 type

zf-C2H2aa 377–399UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

KLF transcription factor 12

HGNC Alias Symbols

AP-2rep; HSPC122; AP2REP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001400136.1

p.S69insFs

c.206_207insA

Surrounding Variants

1 paper

NM_001400136.1

p.S69fs

c.205_206fs

1 paper

NM_001400136.1

p.S71S

c.213T>G

1 paper

NM_001400136.1

p.P81R

c.242C>G

1 paper

NM_001400136.1

p.E52D

c.156A>T

1 paper

NM_001400136.1

p.P49P

c.147C>T

1 paper

NM_001400136.1

p.P93S

c.277C>T

1 paper

NM_001400136.1

p.A95P

c.283G>C

1 paper

NM_001400136.1

p.A95T

c.283G>A

1 paper

NM_001400136.1

p.A95V

c.284C>T

1 paper

NM_001400136.1

p.S97L

c.290C>T

1 paper

NM_001400136.1

p.S117*

c.350C>A

2 papers

NM_001400136.1

p.R122H

c.365G>A