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.R269C

c.805C>T

Surrounding Variants

4 papers

NM_006563.5

p.R268L

c.803G>T

3 papers

NM_006563.5

p.R268*

c.802C>T

1 paper

NM_006563.5

p.S270L

c.809C>T

9 papers

NM_006563.5

p.S270W

c.809C>G

28 papers

NM_006563.5

p.S270*

c.809C>A

1 paper

NM_006563.5

p.G267A

c.800G>C

1 paper

NM_006563.5

p.G267R

c.799G>C

1 paper

NM_006563.5

p.W271*

c.812G>A

1 paper

NM_006563.5

p.W271C

c.813G>C

1 paper

NM_006563.5

p.W271*

c.813G>A

2 papers

NM_006563.5

p.A272P

c.814G>C

1 paper

NM_006563.5

p.R266*

c.796C>T