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

25 papers

NM_006563.5

p.F182L

c.546C>A

Surrounding Variants

25 papers

NM_006563.5

p.F182L

c.546C>G

1 paper

NM_006563.5

p.G180_F182delFs

c.538_545del8

1 paper

NM_006563.5

p.P183S

c.547C>T

29 papers

NM_006563.5

p.F182L

c.544T>C

1 paper

NM_006563.5

p.P183R

c.548C>G

3 papers

NM_006563.5

p.R184W

c.550C>T

1 paper

NM_006563.5

p.Y181C

c.542A>G

3 papers

NM_006563.5

p.Y181N

c.541T>A

1 paper

NM_006563.5

p.R184P

c.551G>C

1 paper

NM_006563.5

p.G180fs

c.538_539fs

1 paper

NM_006563.5

p.R184_G186Fs

c.551_556delinsAFs

1 paper

NM_006563.5

p.S178*

c.533C>A