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.F348L

c.1042T>C

Surrounding Variants

1 paper

NM_006563.5

p.F348L

c.1044T>G

1 paper

NM_006563.5

p.F348L

c.1044T>A

2 papers

NM_006563.5

p.A347D

c.1040C>A

1 paper

NM_006563.5

p.S349fs

c.1045_1046fs

2 papers

NM_006563.5

p.S349delFs

c.1045delA

1 paper

NM_006563.5

p.R346H

c.1037G>A

1 paper

NM_006563.5

p.R350C

c.1048C>T

1 paper

NM_006563.5

p.R350P

c.1049G>C

1 paper

NM_006563.5

p.R350H

c.1049G>A

2 papers

NM_006563.5

p.P345L

c.1034C>T

1 paper

NM_006563.5

p.S351T

c.1051T>A

1 paper

NM_006563.5

p.C344*

c.1032C>A