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.E63K

c.187G>A

Surrounding Variants

1 paper

NM_006563.5

p.E62_E63insT

c.184_188ins3

1 paper

NM_006563.5

p.D65H

c.193G>C

1 paper

NM_006563.5

p.D65N

c.193G>A

1 paper

NM_006563.5

p.E66*

c.196G>T

1 paper

NM_006563.5

p.P59L

c.176C>T

1 paper

NM_006563.5

p.R67W

c.199A>T

5 papers

NM_006563.5

p.Q58H

c.174G>C

2 papers

NM_006563.5

p.R67delFs

c.199delT

7 papers

NM_006563.5

p.Q58*

c.172C>T

1 paper

NM_006563.5

p.G68fs

c.202_203fs

1 paper

NM_006563.5

p.R67delFs

c.200delC

4 papers

NM_006563.5

p.V53_D57delFs

c.159_169del11