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.A69_W73delFs

c.207_217del11

Surrounding Variants

1 paper

NM_006563.5

p.D74H

c.220G>C

1 paper

NM_006563.5

p.D74delFs

c.220delC

1 paper

NM_006563.5

p.L75R

c.224T>G

3 papers

NM_006563.5

p.T72_W73insFs

c.216_217insA

1 paper

NM_006563.5

p.D70E

c.210C>G

1 paper

NM_006563.5

p.L77L

c.231C>T

1 paper

NM_006563.5

p.L77insFs

c.230_231ins4

1 paper

NM_006563.5

p.D70N

c.208G>A

1 paper

NM_006563.5

p.L78F

c.232C>T

1 paper

NM_006563.5

p.D70fs

c.208_209fs

1 paper

NM_006563.5

p.G68delFs

c.204delG

3 papers

NM_006563.5

p.L79F

c.235C>T