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.V149M

c.445G>A

Surrounding Variants

1 paper

NM_006563.5

p.A152S

c.454G>T

1 paper

NM_006563.5

p.A144S

c.430G>T

1 paper

NM_006563.5

p.A144T

c.430G>A

1 paper

NM_006563.5

p.A154A

c.462T>G

3 papers

NM_006563.5

p.R143W

c.427C>T

1 paper

NM_006563.5

p.P155L

c.464C>T

1 paper

NM_006563.5

p.A139_R141delFs

c.417_421del5

1 paper

NM_006563.5

p.R141*

c.421C>T

2 papers

NM_006563.5

p.P157A

c.469C>G

2 papers

NM_006563.5

p.A158T

c.472G>A

1 paper

NM_006563.5

p.L140fs

c.418_419fs

1 paper

NM_006563.5

p.A158fs

c.472_473fs