Varaico: Literature-Extracted Genetic Variants

Gene:CHMP4B
Variant:p.Q67L

CHMP4B

77 papers

RefSeq Summary

This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ES...

Pfam Domains

Snf7aa 24–199UCSCSnf7

Gene Aliases

HGNC Name

charged multivesicular body protein 4B

HGNC Previous Symbol

C20orf178

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_176812.5
p.Q67L
c.200A>T
Surrounding Variants
1 paper
NM_176812.5
p.L69M
c.205C>A
1 paper
NM_176812.5
p.A65V
c.194C>T
1 paper
NM_176812.5
p.A64Splc
c.191-1G>T
1 paper
NM_176812.5
p.R71C
c.211C>T
1 paper
NM_176812.5
p.A64Splc
c.191-5C>T
1 paper
NM_176812.5
p.T88T
c.264C>T
2 papers
NM_176812.5
p.M109K
c.326T>A
1 paper
NM_176812.5
p.G110_Y111insA
c.328_332ins3
1 paper
NM_176812.5
p.A118V
c.353C>T
11 papers
NM_176812.5
p.D129V
c.386A>T
1 paper
NM_176812.5
p.Q138*
c.412C>T
1 paper
NM_176812.5
p.E143_T147del5
c.427_440del15
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."