Varaico: Literature-Extracted Genetic Variants

Gene:CHML
Variant:p.S497*

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.S497*
c.1490C>A
Surrounding Variants
1 paper
NM_001381853.1
p.S497*
c.1490C>G
1 paper
NM_001381853.1
p.D504N
c.1510G>A
1 paper
NM_001381853.1
p.R490W
c.1468C>T
1 paper
NM_001381853.1
p.T511ins5
c.1531_1532ins15
1 paper
NM_001381853.1
p.D521Y
c.1561G>T
2 papers
NM_001381853.1
p.K528_L529delFs
c.1584_1587del4
1 paper
NM_001381853.1
p.P532P
c.1596G>A
1 paper
NM_001381853.1
p.T534A
c.1600A>G
1 paper
NM_001381853.1
p.S455P
c.1363T>C
1 paper
NM_001381853.1
p.E540K
c.1618G>A
1 paper
NM_001381853.1
p.W550*
c.1649G>A
1 paper
NM_001381853.1
p.W550*
c.1650G>A
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