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.E37Q

c.109G>C

Surrounding Variants

1 paper

NM_001964.3

p.E37K

c.109G>A

1 paper

NM_001964.3

p.E37_M39delFs

c.110_116del7

1 paper

NM_001964.3

p.M38del1

c.112_113delATG

1 paper

NM_001964.3

p.E36D

c.108G>C

1 paper

NM_001964.3

p.E36D

c.108G>T

1 paper

NM_001964.3

p.M38_S42delFs

c.112_124del13

1 paper

NM_001964.3

p.M39L

c.115A>C

1 paper

NM_001964.3

p.M39L

c.115A>T

1 paper

NM_001964.3

p.L35fs

c.103_104fs

1 paper

NM_001964.3

p.L35V

c.103C>G

1 paper

NM_001964.3

p.L35L

c.103C>T

1 paper

NM_001964.3

p.K34K

c.102G>A