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.A242delins

c.726delinsCCAT

Surrounding Variants

1 paper

NM_001964.3

p.A242V

c.725C>T

2 papers

NM_001964.3

p.A243T

c.727G>A

2 papers

NM_001964.3

p.P241A

c.721C>G

1 paper

NM_001964.3

p.K244N

c.732G>C

1 paper

NM_001964.3

p.K244N

c.732G>T

4 papers

NM_001964.3

p.G245S

c.733G>A

1 paper

NM_001964.3

p.P237L

c.710C>T

1 paper

NM_001964.3

p.P236A

c.706C>G

1 paper

NM_001964.3

p.Y235F

c.704A>T

1 paper

NM_001964.3

p.M251V

c.751A>G

13 papers

NM_001964.3

p.Q234*

c.700C>T

3 papers

NM_001964.3

p.Q234_P236del3

c.700_707del9