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

3 papers

NM_001964.3

p.P188L

c.563C>T

Surrounding Variants

1 paper

NM_001964.3

p.P189_L190delFs

c.566_569del4

1 paper

NM_001964.3

p.S187N

c.560G>A

2 papers

NM_001964.3

p.L190R

c.569T>G

1 paper

NM_001964.3

p.L190L

c.570G>T

2 papers

NM_001964.3

p.A184A

c.552C>G

1 paper

NM_001964.3

p.C192S

c.574T>A

1 paper

NM_001964.3

p.C192S

c.575G>C

1 paper

NM_001964.3

p.S183S

c.549C>G

1 paper

NM_001964.3

p.A193T

c.577G>A

2 papers

NM_001964.3

p.V194M

c.580G>A

1 paper

NM_001964.3

p.P195ins1

c.583_584insCGT

1 paper

NM_001964.3

p.S181P

c.541T>C