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.A447_T448ins0

c.1339_1344dup6

Surrounding Variants

1 paper

NM_001964.3

p.Y450_Y458del0

c.1350_1373del24

1 paper

NM_001964.3

p.V446F

c.1336G>T

1 paper

NM_001964.3

p.S449fs

c.1345_1346fs

3 papers

NM_001964.3

p.S449_Y450insFs

c.1347_1348insA

2 papers

NM_001964.3

p.Y450fs

c.1348_1349fs

1 paper

NM_001964.3

p.P443T

c.1327C>A

1 paper

NM_001964.3

p.P453L

c.1358C>T

1 paper

NM_001964.3

p.L439I

c.1315C>A

1 paper

NM_001964.3

p.V454A

c.1361T>C

1 paper

NM_001964.3

p.T455I

c.1364C>T

1 paper

NM_001964.3

p.A435T

c.1303G>A

1 paper

NM_001964.3

p.P461A

c.1381C>G