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.L307F

c.919C>T

Surrounding Variants

1 paper

NM_001964.3

p.A306T

c.916G>A

1 paper

NM_001964.3

p.T309A

c.925A>G

1 paper

NM_001964.3

p.D303A

c.908A>C

2 papers

NM_001964.3

p.Q312_S313insC

c.934_938ins3

1 paper

NM_001964.3

p.S301S

c.903C>T

1 paper

NM_001964.3

p.Q312H

c.936G>C

1 paper

NM_001964.3

p.Q312H

c.936G>T

1 paper

NM_001964.3

p.S301A

c.901T>G

1 paper

NM_001964.3

p.S313F

c.938C>T

1 paper

NM_001964.3

p.L315F

c.943C>T

4 papers

NM_001964.3

p.Q298H

c.894G>T

1 paper

NM_001964.3

p.A296_T297delins

c.888_891delinsGTGG