Varaico: Literature-Extracted Genetic Variants

Gene:CHM
Variant:p.T175fs

CHM

258 papers

RefSeq Summary

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTas...

Pfam Domains

GDIaa 5–138UCSCGDP dissociation inhibitor
RAE1_2_domI_Caa 452–580UCSCRAE1/2 domain I, C-terminal region

Gene Aliases

HGNC Name

CHM Rab escort protein

HGNC Previous Symbols

TCD; DXS540

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000390.4
p.T175fs
c.523_524fs
Surrounding Variants
1 paper
NM_000390.4
p.G176E
c.527G>A
21 papers
NM_000390.4
p.T175_G176delFs
c.525_526delCT
1 paper
NM_000390.4
p.T175A
c.523A>G
1 paper
NM_000390.4
p.E173_V174delFs
c.519_520delCT
3 papers
NM_000390.4
p.E177*
c.529G>T
1 paper
NM_000390.4
p.E177K
c.529G>A
9 papers
NM_000390.4
p.E177fs
c.529_530fs
1 paper
NM_000390.4
p.E177G
c.530A>G
5 papers
NM_000390.4
p.E177delFs
c.529delC
1 paper
NM_000390.4
p.K178fs
c.532_533fs
1 paper
NM_000390.4
p.E173*
c.517G>T
2 papers
NM_000390.4
p.E179*
c.535G>T
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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."