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

3 papers

NM_006563.5

p.Y116*

c.348T>G

Surrounding Variants

3 papers

NM_006563.5

p.Y116*

c.348T>A

1 paper

NM_006563.5

p.A117D

c.350C>A

1 paper

NM_006563.5

p.G118S

c.352G>A

2 papers

NM_006563.5

p.P110_A115Fs

c.330_344delinsAGCATATFs

1 paper

NM_006563.5

p.G114R

c.340G>C

1 paper

NM_006563.5

p.G121R

c.361G>A

1 paper

NM_006563.5

p.T112I

c.335C>T

1 paper

NM_006563.5

p.T112insFs

c.334_335ins4

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.V123L

c.367G>C

1 paper

NM_006563.5

p.P110L

c.329C>T