Varaico: Literature-Extracted Genetic Variants

Gene:COIL
Variant:p.D40A

COIL

103 papers

RefSeq Summary

The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the...

Pfam Domains

Coilin_Naa 7–138UCSCCoilin N-terminus
Tudor_Coilinaa 457–565UCSCCoilin, C-terminal Tudor domain

Gene Aliases

HGNC Name

coilin

HGNC Alias Symbols

CLN80; p80-coilin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004645.3
p.D40A
c.119A>C
Surrounding Variants
1 paper
NM_004645.3
p.Q47*
c.139C>T
1 paper
NM_004645.3
p.Y60F
c.179A>T
1 paper
NM_004645.3
p.G63R
c.187G>C
1 paper
NM_004645.3
p.G63R
c.187G>A
1 paper
NM_004645.3
p.L66F
c.198G>T
1 paper
NM_004645.3
p.L66F
c.198G>C
1 paper
NM_004645.3
p.P68S
c.202C>T
1 paper
NM_004645.3
p.D79A
c.236A>C
1 paper
NM_004645.3
p.G89V
c.266G>T
1 paper
NM_004645.3
p.G100G
c.300T>A
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