Varaico: Literature-Extracted Genetic Variants

Gene:CHML
Variant:p.R269W

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
1 paper
NM_001381853.1
p.R269W
c.805C>T
Surrounding Variants
1 paper
NM_001381853.1
p.M291V
c.871A>G
1 paper
NM_001381853.1
p.D232V
c.695A>T
1 paper
NM_001381853.1
p.I222T
c.665T>C
2 papers
NM_001381853.1
p.I217F
c.649A>T
1 paper
NM_001381853.1
p.S323A
c.967T>G
1 paper
NM_001381853.1
p.Y325*
c.975C>G
1 paper
NM_001381853.1
p.Y325*
c.975C>A
1 paper
NM_001381853.1
p.D193G
c.578A>G
1 paper
NM_001381853.1
p.C187C
c.561T>C
1 paper
NM_001381853.1
p.C351Y
c.1052G>A
1 paper
NM_001381853.1
p.C182R
c.544T>C
1 paper
NM_001381853.1
p.A359T
c.1075G>A
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