Varaico: Literature-Extracted Genetic Variants

Gene:CHML
Variant:p.P628S

CHML

65 papers

RefSeq Summary

The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II...

Pfam Domains

GDIaa 5–81UCSCGDP dissociation inhibitor
RAE1_2_domI_Caa 454–582UCSCRAE1/2 domain I, C-terminal region

Gene Aliases

HGNC Name

CHM like Rab escort protein

HGNC Alias Symbol

REP-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001381853.1
p.P628S
c.1882C>T
Surrounding Variants
1 paper
NM_001381853.1
p.I617N
c.1850T>A
1 paper
NM_001381853.1
p.S644R
c.1930A>C
1 paper
NM_001381853.1
p.S644R
c.1932C>G
1 paper
NM_001381853.1
p.S644R
c.1932C>A
1 paper
NM_001381853.1
p.P610fs
c.1828_1829fs
1 paper
NM_001381853.1
p.P609L
c.1826C>T
1 paper
NM_001381853.1
p.E651G
c.1952A>G
1 paper
NM_001381853.1
p.*657*
c.1971G>A
1 paper
NM_001381853.1
p.E594K
c.1780G>A
1 paper
NM_001381853.1
p.D581H
c.1741G>C
1 paper
NM_001381853.1
p.P580fs
c.1738_1739fs
1 paper
NM_001381853.1
p.G579G
c.1737G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."