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.T481N

c.1442C>A

Surrounding Variants

1 paper

NM_001964.3

p.Y482F

c.1445A>T

1 paper

NM_001964.3

p.G478A

c.1433G>C

2 papers

NM_001964.3

p.P477P

c.1431C>T

1 paper

NM_001964.3

p.S476T

c.1426T>A

1 paper

NM_001964.3

p.F474I

c.1420T>A

2 papers

NM_001964.3

p.F490delFs

c.1469delT

1 paper

NM_001964.3

p.V470M

c.1408G>A

1 paper

NM_001964.3

p.P467T

c.1399C>A

1 paper

NM_001964.3

p.A496A

c.1488C>T

1 paper

NM_001964.3

p.S465T

c.1393T>A

1 paper

NM_001964.3

p.S501F

c.1502C>T

1 paper

NM_001964.3

p.P461A

c.1381C>G