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.S33S

c.99C>G

Surrounding Variants

1 paper

NM_006563.5

p.E34*

c.100G>T

2 papers

NM_006563.5

p.E34K

c.100G>A

1 paper

NM_006563.5

p.S33A

c.97T>G

1 paper

NM_006563.5

p.S33T

c.97T>A

1 paper

NM_006563.5

p.R32C

c.94C>T

2 papers

NM_006563.5

p.W31S

c.92G>C

1 paper

NM_006563.5

p.W31*

c.92G>A

1 paper

NM_006563.5

p.W30C

c.90G>C

9 papers

NM_006563.5

p.W30*

c.90G>A

11 papers

NM_006563.5

p.W30*

c.89G>A

2 papers

NM_006563.5

p.Q37*

c.109C>T

6 papers

NM_006563.5

p.K29_W30Splc

c.88-1G>T