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.I359L

c.1075A>C

Surrounding Variants

1 paper

NM_001964.3

p.I359T

c.1076T>C

1 paper

NM_001964.3

p.R360C

c.1078C>T

1 paper

NM_001964.3

p.H358delFs

c.1073delA

1 paper

NM_001964.3

p.R360H

c.1079G>A

1 paper

NM_001964.3

p.I361V

c.1081A>G

1 paper

NM_001964.3

p.L355insFs

c.1064_1065insT

1 paper

NM_001964.3

p.G364C

c.1090G>T

1 paper

NM_001964.3

p.G364delFs

c.1092delC

1 paper

NM_001964.3

p.D353Y

c.1057G>T

1 paper

NM_001964.3

p.K366E

c.1096A>G

1 paper

NM_001964.3

p.S352P

c.1054T>C

1 paper

NM_001964.3

p.S350A

c.1048T>G