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.A136V

c.407C>T

Surrounding Variants

1 paper

NM_001400136.1

p.P147L

c.440C>T

1 paper

NM_001400136.1

p.L148I

c.442C>A

1 paper

NM_001400136.1

p.A124S

c.370G>T

1 paper

NM_001400136.1

p.A124T

c.370G>A

2 papers

NM_001400136.1

p.R122H

c.365G>A

1 paper

NM_001400136.1

p.S117*

c.350C>A

1 paper

NM_001400136.1

p.P166S

c.496C>T

1 paper

NM_001400136.1

p.S97L

c.290C>T

1 paper

NM_001400136.1

p.A95V

c.284C>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.P93S

c.277C>T