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.Q369H

c.1107G>T

Surrounding Variants

1 paper

NM_001964.3

p.Q369H

c.1107G>C

2 papers

NM_001964.3

p.Q369P

c.1106A>C

1 paper

NM_001964.3

p.Q369R

c.1106A>G

1 paper

NM_001964.3

p.Q369K

c.1105C>A

2 papers

NM_001964.3

p.R371C

c.1111C>T

1 paper

NM_001964.3

p.R371L

c.1112G>T

1 paper

NM_001964.3

p.K366E

c.1096A>G

1 paper

NM_001964.3

p.M374R

c.1121T>G

1 paper

NM_001964.3

p.R375C

c.1123C>T

1 paper

NM_001964.3

p.G364delFs

c.1092delC

1 paper

NM_001964.3

p.G364C

c.1090G>T

1 paper

NM_001964.3

p.I361V

c.1081A>G