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

1–12 of 59 variants

2 papers

NM_001400136.1

p.R122H

c.365G>A

2 papers

NM_001400136.1

p.G280G

c.840C>A

2 papers

NM_001400136.1

p.S332C

c.995C>G

2 papers

NM_001400136.1

p.R369L

c.1106G>T

1 paper

NM_001400136.1

p.K11N

c.33G>T

1 paper

NM_001400136.1

p.K11N

c.33G>C

1 paper

NM_001400136.1

p.K11_N12Splc

c.34-156A>T

1 paper

NM_001400136.1

p.K11_N12Splc

c.34-3C>T

1 paper

NM_001400136.1

p.F16L

c.46T>C

1 paper

NM_001400136.1

p.M20V

c.58A>G

1 paper

NM_001400136.1

p.R30G

c.88A>G

1 paper

NM_001400136.1

p.E39D

c.117A>T