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.S294A

c.880T>G

Surrounding Variants

1 paper

NM_006563.5

p.S294ins4

c.880_881ins12

1 paper

NM_006563.5

p.S294C

c.881C>G

1 paper

NM_006563.5

p.Y290_S293del0

c.868_879del12

2 papers

NM_006563.5

p.H295Fs

c.883delinsTTFs

3 papers

NM_006563.5

p.H295fs

c.883_884fs

2 papers

NM_006563.5

p.H295R

c.884A>G

9 papers

NM_006563.5

p.K292*

c.874A>T

4 papers

NM_006563.5

p.L296P

c.887T>C

2 papers

NM_006563.5

p.T291A

c.871A>G

1 paper

NM_006563.5

p.K297R

c.890A>G

2 papers

NM_006563.5

p.Y290H

c.868T>C

1 paper

NM_006563.5

p.A298S

c.892G>T