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.Q223L

c.668A>T

Surrounding Variants

3 papers

NM_006563.5

p.Q223*

c.667C>T

1 paper

NM_006563.5

p.G224R

c.670G>C

1 paper

NM_006563.5

p.G224R

c.670G>A

2 papers

NM_006563.5

p.L222fs

c.664_665fs

3 papers

NM_006563.5

p.G221delFs

c.663delC

1 paper

NM_006563.5

p.L218L

c.654C>T

6 papers

NM_006563.5

p.Q217*

c.649C>T

1 paper

NM_006563.5

p.A230_T231ins4

c.688_692ins12

1 paper

NM_006563.5

p.A230T

c.688G>A

1 paper

NM_006563.5

p.F216L

c.648C>G

1 paper

NM_006563.5

p.F216L

c.648C>A

1 paper

NM_006563.5

p.F216_Q217insA

c.646_650ins3