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.M8I

c.24G>A

Surrounding Variants

1 paper

NM_001964.3

p.Q9delFs

c.26delA

1 paper

NM_001964.3

p.Q9H

c.27G>C

1 paper

NM_001964.3

p.L10L

c.28C>T

1 paper

NM_001964.3

p.L10P

c.29T>C

1 paper

NM_001964.3

p.L10L

c.30G>C

1 paper

NM_001964.3

p.M11ins3

c.32_33ins9

1 paper

NM_001964.3

p.K5R

c.14A>G

1 paper

NM_001964.3

p.P13delFs

c.38delC

1 paper

NM_001964.3

p.P13S

c.37C>T

2 papers

NM_001964.3

p.A3E

c.8C>A

1 paper

NM_001964.3

p.A3G

c.8C>G

1 paper

NM_001964.3

p.A3V

c.8C>T