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.P108R

c.323C>G

Surrounding Variants

9 papers

NM_006563.5

p.P109S

c.325C>T

2 papers

NM_006563.5

p.Y106*

c.318T>G

2 papers

NM_006563.5

p.Y106*

c.318T>A

1 paper

NM_006563.5

p.P110L

c.329C>T

1 paper

NM_006563.5

p.E111K

c.331G>A

2 papers

NM_006563.5

p.E111fs

c.331_332fs

1 paper

NM_006563.5

p.T112insFs

c.334_335ins4

7 papers

NM_006563.5

p.A104V

c.311C>T

1 paper

NM_006563.5

p.T112I

c.335C>T

3 papers

NM_006563.5

p.A104insFs

c.310dupG

2 papers

NM_006563.5

p.A104fs

c.310_311fs

1 paper

NM_006563.5

p.G114R

c.340G>C