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.T302K

c.905C>A

Surrounding Variants

2 papers

NM_006563.5

p.T302fs

c.904_905fs

2 papers

NM_006563.5

p.L300_R301insFs

c.900_903dup4

1 paper

NM_006563.5

p.R301_T302insFs

c.903_904ins4

4 papers

NM_006563.5

p.R301L

c.902G>T

2 papers

NM_006563.5

p.R301insFs

c.902_903insT

16 papers

NM_006563.5

p.R301H

c.902G>A

11 papers

NM_006563.5

p.R301C

c.901C>T

6 papers

NM_006563.5

p.L300P

c.899T>C

1 paper

NM_006563.5

p.T304R

c.911C>G

2 papers

NM_006563.5

p.T304K

c.911C>A

8 papers

NM_006563.5

p.G305Splc

c.913+1G>A

1 paper

NM_006563.5

p.G305Splc

c.913+2T>G