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.V342G

c.1025T>G

Surrounding Variants

1 paper

NM_001964.3

p.V342V

c.1026G>A

12 papers

NM_001964.3

p.E343_S344insFs

c.1029_1030insT

1 paper

NM_001964.3

p.S344C

c.1031C>G

1 paper

NM_001964.3

p.A339T

c.1015G>A

1 paper

NM_001964.3

p.F349del1

c.1045_1046delTTC

1 paper

NM_001964.3

p.E335E

c.1005A>G

1 paper

NM_001964.3

p.S350A

c.1048T>G

2 papers

NM_001964.3

p.H334R

c.1001A>G

2 papers

NM_001964.3

p.H334N

c.1000C>A

1 paper

NM_001964.3

p.H334fs

c.1000_1001fs

1 paper

NM_001964.3

p.P333R

c.998C>G

1 paper

NM_001964.3

p.S352P

c.1054T>C