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

Selected Variant

2 papers

NM_025083.5

p.F213L

c.639T>G

Surrounding Variants

2 papers

NM_025083.5

p.F213L

c.639T>A

2 papers

NM_025083.5

p.F213L

c.637T>C

1 paper

NM_025083.5

p.R232G

c.694C>G

1 paper

NM_025083.5

p.R243W

c.727C>T

1 paper

NM_025083.5

p.N238_Y244ins2

c.714_731dup18

1 paper

NM_025083.5

p.L179*

c.536T>G

1 paper

NM_025083.5

p.L179*

c.536T>A

1 paper

NM_025083.5

p.S177T

c.530G>C

1 paper

NM_025083.5

p.T173_P174delFs

c.518_521del4

1 paper

NM_025083.5

p.Q171delFs

c.512delT

1 paper

NM_025083.5

p.V257_Y258insFs

c.771_772insT

1 paper

NM_025083.5

p.Y258fs

c.772_773fs