Varaico: Literature-Extracted Genetic Variants

EGR3

60 papers

RefSeq Summary

This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation....

Pfam Domains

DUF3446aa 87–173UCSCEarly growth response N-terminal domain

zf-C2H2aa 275–299UCSCZinc finger, C2H2 type

zf-C2H2aa 305–327UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

early growth response 3

HGNC Alias Symbol

PILOT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004430.3

p.P64S

c.190C>T

Surrounding Variants

1 paper

NM_004430.3

p.G72D

c.215G>A

1 paper

NM_004430.3

p.T82T

c.246C>A

1 paper

NM_004430.3

p.S104R

c.312C>G

1 paper

NM_004430.3

p.A108A

c.324C>A

1 paper

NM_004430.3

p.G118R

c.352G>C

1 paper

NM_004430.3

p.L120L

c.360C>A

1 paper

NM_004430.3

p.P146S

c.436C>T

1 paper

NM_004430.3

p.E52Splc

c.155-272C>T

1 paper

NM_004430.3

p.D175V

c.524A>T

1 paper

NM_004430.3

p.L187F

c.559C>T

1 paper

NM_004430.3

p.P249fs

c.745_746fs

1 paper

NM_004430.3

p.T252I

c.755C>T