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.P190S

c.568C>T

Surrounding Variants

3 papers

NM_006563.5

p.P190fs

c.568_569fs

7 papers

NM_006563.5

p.P190delFs

c.569delG

1 paper

NM_006563.5

p.A191P

c.571G>C

3 papers

NM_006563.5

p.A191V

c.572C>T

1 paper

NM_006563.5

p.G194C

c.580G>T

1 paper

NM_006563.5

p.G194S

c.580G>A

1 paper

NM_006563.5

p.R184_G186Fs

c.551_556delinsAFs

1 paper

NM_006563.5

p.R184P

c.551G>C

3 papers

NM_006563.5

p.R184W

c.550C>T

1 paper

NM_006563.5

p.P183R

c.548C>G

1 paper

NM_006563.5

p.P183S

c.547C>T

25 papers

NM_006563.5

p.F182L

c.546C>G