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.F225L

c.675C>G

Surrounding Variants

1 paper

NM_001964.3

p.F225L

c.675C>A

1 paper

NM_001964.3

p.F225Y

c.674T>A

1 paper

NM_001964.3

p.P226Q

c.677C>A

1 paper

NM_001964.3

p.F225L

c.673T>C

1 paper

NM_001964.3

p.Q223P

c.668A>C

1 paper

NM_001964.3

p.S228L

c.683C>T

1 paper

NM_001964.3

p.Q221P

c.662A>C

1 paper

NM_001964.3

p.Q221*

c.661C>T

1 paper

NM_001964.3

p.A232S

c.694G>T

1 paper

NM_001964.3

p.P218S

c.652C>T

1 paper

NM_001964.3

p.L233P

c.698T>C

3 papers

NM_001964.3

p.Q234_P236del3

c.700_707del9