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

2 papers

NM_006563.5

p.K54fs

c.160_161fs

Surrounding Variants

2 papers

NM_006563.5

p.K54R

c.161A>G

4 papers

NM_006563.5

p.V53L

c.157G>T

4 papers

NM_006563.5

p.V53L

c.157G>C

2 papers

NM_006563.5

p.H52P

c.155A>C

11 papers

NM_006563.5

p.H52Y

c.154C>T

1 paper

NM_006563.5

p.L51L

c.153C>G

1 paper

NM_006563.5

p.E56V

c.167A>T

1 paper

NM_006563.5

p.E56A

c.167A>C

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