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.T280fs

c.838_839fs

Surrounding Variants

2 papers

NM_006563.5

p.H279Q

c.837C>G

2 papers

NM_006563.5

p.H279Q

c.837C>A

1 paper

NM_006563.5

p.T280delFs

c.839delG

2 papers

NM_006563.5

p.A278V

c.833C>T

2 papers

NM_006563.5

p.H283N

c.847C>A

1 paper

NM_006563.5

p.Q276*

c.826C>T

2 papers

NM_006563.5

p.T280_H283del0

c.838_849del12

1 paper

NM_006563.5

p.P284L

c.851C>T

1 paper

NM_006563.5

p.H283del1

c.847_848delGTG

1 paper

NM_006563.5

p.R273L

c.818G>T

2 papers

NM_006563.5

p.A272P

c.814G>C

34 papers

NM_006563.5

p.K288*

c.862A>T