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

1–12 of 428 variants

13 papers

NM_001964.3

p.Q234*

c.700C>T

12 papers

NM_001964.3

p.E343_S344insFs

c.1029_1030insT

4 papers

NM_001964.3

p.N78_S79del1

c.234_236delCAG

4 papers

NM_001964.3

p.G245S

c.733G>A

4 papers

NM_001964.3

p.Q298H

c.894G>T

3 papers

NM_001964.3

p.M1V

c.1A>G

3 papers

NM_001964.3

p.M1T

c.2T>C

3 papers

NM_001964.3

p.G21E

c.62G>A

3 papers

NM_001964.3

p.S26A

c.76T>G

3 papers

NM_001964.3

p.D30N

c.88G>A

3 papers

NM_001964.3

p.S42I

c.125G>T

3 papers

NM_001964.3

p.P188L

c.563C>T