Varaico: Literature-Extracted Genetic Variants

EGR1

642 papers

RefSeq Summary

The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it acti...

Pfam Domains

DUF3446aa 135–237UCSCEarly growth response N-terminal domain

zf-C2H2aa 338–362UCSCZinc finger, C2H2 type

zf-C2H2aa 368–390UCSCZinc finger, C2H2 type

zf-C2H2aa 396–418UCSCZinc finger, C2H2 type

DUF3432aa 423–462UCSCDomain of unknown function (DUF3432)

DUF3432aa 452–530UCSCDomain of unknown function (DUF3432)

Gene Aliases

HGNC Name

early growth response 1

HGNC Alias Symbols

225; TIS8; AT225; G0S30; NGFI-A; ZIF268; KROX-24; ZIF-268

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001964.3

p.L154F

c.460C>T

Surrounding Variants

1 paper

NM_001964.3

p.L154R

c.461T>G

1 paper

NM_001964.3

p.P153L

c.458C>T

1 paper

NM_001964.3

p.P151P

c.453C>T

1 paper

NM_001964.3

p.S156insFs

c.467_468insT

2 papers

NM_001964.3

p.V158I

c.472G>A

1 paper

NM_001964.3

p.T148A

c.442A>G

1 paper

NM_001964.3

p.N147I

c.440A>T

1 paper

NM_001964.3

p.L161V

c.481C>G

1 paper

NM_001964.3

p.G146G

c.438C>T

1 paper

NM_001964.3

p.N147_P153insFs

c.439_457dup19

1 paper

NM_001964.3

p.V162E

c.485T>A

1 paper

NM_001964.3

p.P143L

c.428C>T