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

4 papers

NM_006563.5

p.G202R

c.604G>C

Surrounding Variants

4 papers

NM_006563.5

p.G202R

c.604G>A

1 paper

NM_006563.5

p.G198R

c.592G>C

1 paper

NM_006563.5

p.G198R

c.592G>A

4 papers

NM_006563.5

p.Y197*

c.591C>G

3 papers

NM_006563.5

p.Y197*

c.591C>A

1 paper

NM_006563.5

p.Y197C

c.590A>G

1 paper

NM_006563.5

p.Y207N

c.619T>A

3 papers

NM_006563.5

p.Y207*

c.621C>G

3 papers

NM_006563.5

p.Y207*

c.621C>A

1 paper

NM_006563.5

p.A209V

c.626C>T

1 paper

NM_006563.5

p.G194C

c.580G>T

1 paper

NM_006563.5

p.G194S

c.580G>A