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.R319S

c.957A>T

Surrounding Variants

1 paper

NM_006563.5

p.R319fs

c.955_956fs

1 paper

NM_006563.5

p.R319*

c.955A>T

10 papers

NM_006563.5

p.W318insFs

c.954dupG

7 papers

NM_006563.5

p.R319fs

c.955_956fs

2 papers

NM_006563.5

p.W318C

c.954G>T

2 papers

NM_006563.5

p.W318C

c.954G>C

2 papers

NM_006563.5

p.W318*

c.954G>A

1 paper

NM_006563.5

p.W318*

c.953G>A

1 paper

NM_006563.5

p.G317del1

c.949_950delGCC

5 papers

NM_006563.5

p.R322S

c.964C>A

1 paper

NM_006563.5

p.C316delFs

c.948delG

1 paper

NM_006563.5

p.C316W

c.948C>G