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.G89R

c.265G>C

Surrounding Variants

1 paper

NM_006563.5

p.P87delFs

c.261delG

1 paper

NM_006563.5

p.P87P

c.261C>A

1 paper

NM_006563.5

p.P87S

c.259C>T

1 paper

NM_006563.5

p.P91R

c.272C>G

1 paper

NM_006563.5

p.G84S

c.250G>A

1 paper

NM_006563.5

p.S83S

c.249G>A

3 papers

NM_006563.5

p.S83L

c.248C>T

1 paper

NM_006563.5

p.C94*

c.282C>A

1 paper

NM_006563.5

p.F82L

c.246C>A

1 paper

NM_006563.5

p.G88_A95insFs

c.262_284dup23

1 paper

NM_006563.5

p.F82I

c.244T>A

1 paper

NM_006563.5

p.L96P

c.287T>C