Varaico: Literature-Extracted Genetic Variants

EDC3

43 papers

RefSeq Summary

This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from m...

Pfam Domains

LSM14aa 4–67UCSCScd6-like Sm domain

Edc3_linkeraa 102–194UCSCLinker region of enhancer of mRNA-decapping protein 3

FDFaa 198–301UCSCFDF domain

YjeF_Naa 301–467UCSCYjeF-related protein N-terminus

Gene Aliases

HGNC Name

enhancer of mRNA decapping 3

HGNC Previous Symbol

YJDC

Papers

RefSeq ID

Protein change

DNA change

1–12 of 58 variants

6 papers

NM_025083.5

p.F54S

c.161T>C

4 papers

NM_025083.5

p.V267M

c.799G>A

2 papers

NM_025083.5

p.S161A

c.481T>G

2 papers

NM_025083.5

p.F213L

c.637T>C

2 papers

NM_025083.5

p.F213L

c.639T>G

2 papers

NM_025083.5

p.F213L

c.639T>A

2 papers

NM_025083.5

p.I479V

c.1435A>G

1 paper

NM_025083.5

p.S11F

c.32C>T

1 paper

NM_025083.5

p.L37V

c.109C>G

1 paper

NM_025083.5

p.N43K

c.129T>G

1 paper

NM_025083.5

p.N43K

c.129T>A

1 paper

NM_025083.5

p.C47Y

c.140G>A