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

2 papers

NM_001400136.1

p.S332C

c.995C>G

Surrounding Variants

1 paper

NM_001400136.1

p.K335E

c.1003A>G

1 paper

NM_001400136.1

p.R338insFs

c.1012_1013insT

1 paper

NM_001400136.1

p.K326R

c.977A>G

1 paper

NM_001400136.1

p.K326insFs

c.977_978insC

1 paper

NM_001400136.1

p.R339_T340delFs

c.1017_1018delTC

1 paper

NM_001400136.1

p.H341insFs

c.1022_1023insT

1 paper

NM_001400136.1

p.R318R

c.954A>G

1 paper

NM_001400136.1

p.R318insFs

c.952_953insA

1 paper

NM_001400136.1

p.R315_I316insFs

c.945_946insC

1 paper

NM_001400136.1

p.R315C

c.943C>T

1 paper

NM_001400136.1

p.D310V

c.929A>T

1 paper

NM_001400136.1

p.E307*

c.919G>T