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.M29L

c.85A>T

Surrounding Variants

1 paper

NM_001964.3

p.M29insFs

c.85_86insG

1 paper

NM_001964.3

p.M29L

c.85A>C

1 paper

NM_001964.3

p.M29insFs

c.86_87insA

1 paper

NM_001964.3

p.T28S

c.83C>G

1 paper

NM_001964.3

p.T28I

c.83C>T

1 paper

NM_001964.3

p.T28S

c.82A>T

3 papers

NM_001964.3

p.D30N

c.88G>A

2 papers

NM_001964.3

p.D30A

c.89A>C

1 paper

NM_001964.3

p.D30V

c.89A>T

2 papers

NM_001964.3

p.D30E

c.90C>A

2 papers

NM_001964.3

p.D30E

c.90C>G

1 paper

NM_001964.3

p.N31insFs

c.91_92insT