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

1–12 of 476 variants

75 papers

NM_006563.5

p.E325K

c.973G>A

34 papers

NM_006563.5

p.S102P

c.304T>C

34 papers

NM_006563.5

p.K288*

c.862A>T

29 papers

NM_006563.5

p.F182L

c.544T>C

28 papers

NM_006563.5

p.S270*

c.809C>A

26 papers

NM_006563.5

p.R328H

c.983G>A

25 papers

NM_006563.5

p.P173_A175insFs

c.519_525dup7

25 papers

NM_006563.5

p.F182L

c.546C>G

25 papers

NM_006563.5

p.F182L

c.546C>A

24 papers

NM_006563.5

p.T334R

c.1001C>G

22 papers

NM_006563.5

p.A298P

c.892G>C

19 papers

NM_006563.5

p.K332Q

c.994A>C