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

4 papers

NM_006563.5

p.S323W

c.968C>G

Surrounding Variants

5 papers

NM_006563.5

p.S323L

c.968C>T

1 paper

NM_006563.5

p.S323P

c.967T>C

5 papers

NM_006563.5

p.R322S

c.964C>A

75 papers

NM_006563.5

p.E325K

c.973G>A

11 papers

NM_006563.5

p.L326R

c.977T>G

7 papers

NM_006563.5

p.T327S

c.979A>T

1 paper

NM_006563.5

p.R319S

c.957A>T

1 paper

NM_006563.5

p.R319fs

c.955_956fs

7 papers

NM_006563.5

p.T327S

c.980C>G

1 paper

NM_006563.5

p.R319*

c.955A>T

10 papers

NM_006563.5

p.W318insFs

c.954dupG

7 papers

NM_006563.5

p.R319fs

c.955_956fs