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.A154A

c.462T>G

Surrounding Variants

1 paper

NM_006563.5

p.P155L

c.464C>T

2 papers

NM_006563.5

p.P157A

c.469C>G

1 paper

NM_006563.5

p.A152S

c.454G>T

2 papers

NM_006563.5

p.A158T

c.472G>A

1 paper

NM_006563.5

p.A158fs

c.472_473fs

2 papers

NM_006563.5

p.A158delFs

c.472delC

1 paper

NM_006563.5

p.P159L

c.476C>T

1 paper

NM_006563.5

p.E160K

c.478G>A

1 paper

NM_006563.5

p.V149M

c.445G>A

1 paper

NM_006563.5

p.K162Q

c.484A>C

3 papers

NM_006563.5

p.K162insFs

c.484_485insC

1 paper

NM_006563.5

p.A144S

c.430G>T