Varaico: Literature-Extracted Genetic Variants

KLF1

341 papers

RefSeq Summary

This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCA...

Pfam Domains

EKLF_TAD1aa 22–48UCSCErythroid krueppel-like transcription factor, transactivation 1

EKLF_TAD2aa 59–85UCSCErythroid krueppel-like transcription factor, transactivation 2

zf-C2H2aa 279–303UCSCZinc finger, C2H2 type

zf-C2H2aa 309–333UCSCZinc finger, C2H2 type

zf-C2H2aa 339–361UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

KLF transcription factor 1

HGNC Alias Symbol

EKLF

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006563.5

p.S178*

c.533C>A

Surrounding Variants

1 paper

NM_006563.5

p.A175_G176ins1

c.525_526insCGG

12 papers

NM_006563.5

p.A175_G176insFs

c.525_526ins7

1 paper

NM_006563.5

p.A175_G176insFs

c.525_526ins8

2 papers

NM_006563.5

p.G176fs

c.526_527fs

1 paper

NM_006563.5

p.G180fs

c.538_539fs

1 paper

NM_006563.5

p.A175_G176insFs

c.525_526dupCG

1 paper

NM_006563.5

p.G176A

c.527G>C

25 papers

NM_006563.5

p.P173_A175insFs

c.519_525dup7

1 paper

NM_006563.5

p.G176R

c.526G>C

12 papers

NM_006563.5

p.G176fs

c.526_527fs

3 papers

NM_006563.5

p.Y181N

c.541T>A

1 paper

NM_006563.5

p.A175_G176insFs

c.525_526ins7