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

18 papers

NM_006563.5

p.H299D

c.895C>G

Surrounding Variants

11 papers

NM_006563.5

p.H299Y

c.895C>T

2 papers

NM_006563.5

p.A298E

c.893C>A

1 paper

NM_006563.5

p.A298S

c.892G>T

22 papers

NM_006563.5

p.A298P

c.892G>C

6 papers

NM_006563.5

p.L300P

c.899T>C

1 paper

NM_006563.5

p.K297R

c.890A>G

11 papers

NM_006563.5

p.R301C

c.901C>T

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

4 papers

NM_006563.5

p.L296P

c.887T>C

1 paper

NM_006563.5

p.R301_T302insFs

c.903_904ins4