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

19 papers

NM_006563.5

p.K332Q

c.994A>C

Surrounding Variants

1 paper

NM_006563.5

p.K332E

c.994A>G

2 papers

NM_006563.5

p.R331Q

c.992G>A

9 papers

NM_006563.5

p.R331W

c.991C>T

11 papers

NM_006563.5

p.R331G

c.991C>G

2 papers

NM_006563.5

p.Y330C

c.989A>G

1 paper

NM_006563.5

p.T334_G335ins4

c.1000_1004ins12

5 papers

NM_006563.5

p.T334M

c.1001C>T

24 papers

NM_006563.5

p.T334R

c.1001C>G

7 papers

NM_006563.5

p.T334K

c.1001C>A

4 papers

NM_006563.5

p.H329R

c.986A>G

1 paper

NM_006563.5

p.G335W

c.1003G>T

13 papers

NM_006563.5

p.G335R

c.1003G>C