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.R337L

c.1010G>T

Surrounding Variants

1 paper

NM_006563.5

p.R337H

c.1010G>A

1 paper

NM_006563.5

p.R337R

c.1011C>T

12 papers

NM_006563.5

p.P338S

c.1012C>T

15 papers

NM_006563.5

p.P338T

c.1012C>A

1 paper

NM_006563.5

p.P338L

c.1013C>T

1 paper

NM_006563.5

p.G335A

c.1004G>C

1 paper

NM_006563.5

p.G335W

c.1003G>T

13 papers

NM_006563.5

p.G335R

c.1003G>C

14 papers

NM_006563.5

p.G335R

c.1003G>A

5 papers

NM_006563.5

p.T334M

c.1001C>T

24 papers

NM_006563.5

p.T334R

c.1001C>G

7 papers

NM_006563.5

p.T334K

c.1001C>A