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.A310G

c.929C>G

Surrounding Variants

1 paper

NM_006563.5

p.A310_C311insG

c.928_932ins3

4 papers

NM_006563.5

p.A310P

c.928G>C

1 paper

NM_006563.5

p.Y309F

c.926A>T

3 papers

NM_006563.5

p.K307N

c.921G>T

3 papers

NM_006563.5

p.K307N

c.921G>C

1 paper

NM_006563.5

p.W313L

c.938G>T

2 papers

NM_006563.5

p.W313*

c.938G>A

8 papers

NM_006563.5

p.W313C

c.939G>T

7 papers

NM_006563.5

p.W313C

c.939G>C

3 papers

NM_006563.5

p.W313*

c.939G>A

1 paper

NM_006563.5

p.E306fs

c.916_917fs

1 paper

NM_006563.5

p.E306V

c.917A>T