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.E48*

c.142G>T

Surrounding Variants

1 paper

NM_006563.5

p.T47S

c.139A>T

2 papers

NM_006563.5

p.D45delFs

c.135delG

1 paper

NM_006563.5

p.P46L

c.137C>T

1 paper

NM_006563.5

p.P46A

c.136C>G

1 paper

NM_006563.5

p.P50L

c.149C>T

1 paper

NM_006563.5

p.L51F

c.151C>T

1 paper

NM_006563.5

p.L51V

c.151C>G

3 papers

NM_006563.5

p.P50insFs

c.149dupC

9 papers

NM_006563.5

p.L51R

c.152T>G

1 paper

NM_006563.5

p.L51P

c.152T>C

1 paper

NM_006563.5

p.L51delFs

c.151delG

1 paper

NM_006563.5

p.L51L

c.153C>G