Varaico: Literature-Extracted Genetic Variants

Gene:CHML
Variant:p.N4S

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
2 papers
NM_001381853.1
p.N4S
c.11A>G
Surrounding Variants
1 paper
NM_001381853.1
p.M1I
c.3G>T
1 paper
NM_001381853.1
p.M1I
c.3G>C
1 paper
NM_001381853.1
p.M1I
c.3G>A
1 paper
NM_001381853.1
p.Q32*
c.94C>T
1 paper
NM_001381853.1
p.Y42C
c.125A>G
1 paper
NM_001381853.1
p.D67N
c.199G>A
1 paper
NM_001381853.1
p.W76_D78Fs
c.227_232delinsTGTCATTTCAFs
1 paper
NM_001381853.1
p.Y104Y
c.312C>T
1 paper
NM_001381853.1
p.N122fs
c.364_365fs
1 paper
NM_001381853.1
p.L135delFs
c.403_404delAG
1 paper
NM_001381853.1
p.S146L
c.437C>T
1 paper
NM_001381853.1
p.D162N
c.484G>A
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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."