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

2 papers

NM_006563.5

p.M358I

c.1074G>A

Surrounding Variants

2 papers

NM_006563.5

p.M358I

c.1074G>T

2 papers

NM_006563.5

p.M358I

c.1074G>C

1 paper

NM_006563.5

p.K359E

c.1075A>G

1 paper

NM_006563.5

p.K359Q

c.1075A>C

7 papers

NM_006563.5

p.H357Q

c.1071C>G

7 papers

NM_006563.5

p.H357Q

c.1071C>A

4 papers

NM_006563.5

p.H357P

c.1070A>C

4 papers

NM_006563.5

p.R360H

c.1079G>A

1 paper

NM_006563.5

p.L356*

c.1067T>A

1 paper

NM_006563.5

p.A355V

c.1064C>T

1 paper

NM_006563.5

p.A355P

c.1063G>C

2 papers

NM_006563.5

p.L354V

c.1060C>G