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.L116L

c.346C>T

Surrounding Variants

1 paper

NM_001964.3

p.L116P

c.347T>C

1 paper

NM_001964.3

p.V117delFs

c.349delG

1 paper

NM_001964.3

p.V115E

c.344T>A

1 paper

NM_001964.3

p.V115M

c.343G>A

1 paper

NM_001964.3

p.V117M

c.349G>A

1 paper

NM_001964.3

p.K114N

c.342G>C

1 paper

NM_001964.3

p.K114T

c.341A>C

1 paper

NM_001964.3

p.K114R

c.341A>G

1 paper

NM_001964.3

p.E118K

c.352G>A

1 paper

NM_001964.3

p.E118Q

c.352G>C

1 paper

NM_001964.3

p.T119P

c.355A>C

1 paper

NM_001964.3

p.T119S

c.355A>T