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.Q306*

c.916C>T

Surrounding Variants

1 paper

NM_004430.3

p.T300M

c.899C>T

1 paper

NM_004430.3

p.R294R

c.880C>A

1 paper

NM_004430.3

p.E291G

c.872A>G

1 paper

NM_004430.3

p.E291K

c.871G>A

1 paper

NM_004430.3

p.T322delFs

c.966delA

1 paper

NM_004430.3

p.R284_R285delFs

c.852_855del4

1 paper

NM_004430.3

p.C338C

c.1014C>T

1 paper

NM_004430.3

p.E347D

c.1041G>T

1 paper

NM_004430.3

p.E347D

c.1041G>C

1 paper

NM_004430.3

p.D346_E347del1

c.1038_1040delTCG

1 paper

NM_004430.3

p.R350C

c.1048C>T

1 paper

NM_004430.3

p.R259fs

c.775_776fs