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.N78Y

c.232A>T

Surrounding Variants

1 paper

NM_001964.3

p.N78T

c.233A>C

1 paper

NM_001964.3

p.N78I

c.233A>T

4 papers

NM_001964.3

p.N78_S79del1

c.234_236delCAG

1 paper

NM_001964.3

p.G76G

c.228C>A

1 paper

NM_001964.3

p.G76G

c.228C>T

1 paper

NM_001964.3

p.S79N

c.236G>A

2 papers

NM_001964.3

p.N78_S79del2

c.232_236del6

1 paper

NM_001964.3

p.S80R

c.238A>C

1 paper

NM_001964.3

p.G76S

c.226G>A

1 paper

NM_001964.3

p.G76fs

c.226_227fs

1 paper

NM_001964.3

p.G75G

c.225C>A

2 papers

NM_001964.3

p.G75_S81delFs

c.225_243del19