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.M39I

c.117G>T

Surrounding Variants

1 paper

NM_006563.5

p.M39T

c.116T>C

1 paper

NM_006563.5

p.G40V

c.119G>T

14 papers

NM_006563.5

p.M39L

c.115A>T

14 papers

NM_006563.5

p.M39L

c.115A>C

1 paper

NM_006563.5

p.D38delFs

c.114delG

1 paper

NM_006563.5

p.D38E

c.114C>G

3 papers

NM_006563.5

p.D38E

c.114C>A

2 papers

NM_006563.5

p.D38G

c.113A>G

1 paper

NM_006563.5

p.G42V

c.125G>T

1 paper

NM_006563.5

p.G42D

c.125G>A

2 papers

NM_006563.5

p.Q37*

c.109C>T

1 paper

NM_006563.5

p.P43H

c.128C>A