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.E56Q

c.166G>C

Surrounding Variants

1 paper

NM_001964.3

p.E56E

c.168G>A

1 paper

NM_001964.3

p.P55fs

c.163_164fs

1 paper

NM_001964.3

p.P55S

c.163C>T

1 paper

NM_001964.3

p.S58N

c.173G>A

1 paper

NM_001964.3

p.G53G

c.159G>C

1 paper

NM_001964.3

p.G59_S64delFs

c.176_191del16

2 papers

NM_001964.3

p.G53E

c.158G>A

1 paper

NM_001964.3

p.G53A

c.158G>C

1 paper

NM_001964.3

p.S60R

c.178A>C

1 paper

NM_001964.3

p.S60T

c.179G>C

1 paper

NM_001964.3

p.A51T

c.151G>A

1 paper

NM_001964.3

p.N61S

c.182A>G