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

7 papers

NM_006563.5

p.T327S

c.980C>G

Surrounding Variants

7 papers

NM_006563.5

p.T327S

c.979A>T

1 paper

NM_006563.5

p.R328C

c.982C>T

1 paper

NM_006563.5

p.R328S

c.982C>A

3 papers

NM_006563.5

p.R328fs

c.982_983fs

11 papers

NM_006563.5

p.L326R

c.977T>G

13 papers

NM_006563.5

p.R328L

c.983G>T

26 papers

NM_006563.5

p.R328H

c.983G>A

4 papers

NM_006563.5

p.R328delFs

c.982delG

4 papers

NM_006563.5

p.H329R

c.986A>G

75 papers

NM_006563.5

p.E325K

c.973G>A

2 papers

NM_006563.5

p.Y330C

c.989A>G

9 papers

NM_006563.5

p.R331W

c.991C>T