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.G125R

c.373G>C

Surrounding Variants

1 paper

NM_006563.5

p.G125R

c.373G>A

1 paper

NM_006563.5

p.L126P

c.377T>C

1 paper

NM_006563.5

p.V123L

c.367G>C

1 paper

NM_006563.5

p.L127S

c.380T>C

8 papers

NM_006563.5

p.L127*

c.380T>A

1 paper

NM_006563.5

p.G128S

c.382G>A

1 paper

NM_006563.5

p.G121R

c.361G>A

1 paper

NM_006563.5

p.E130Q

c.388G>C

1 paper

NM_006563.5

p.D131N

c.391G>A

1 paper

NM_006563.5

p.G118S

c.352G>A

1 paper

NM_006563.5

p.A117D

c.350C>A

3 papers

NM_006563.5

p.Y116*

c.348T>G