Varaico: Literature-Extracted Genetic Variants

Gene:CERT1
Variant:p.Q174R

CERT1

78 papers

RefSeq Summary

This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture ...

Pfam Domains

PHaa 24–117UCSCPH domain
PHaa 24–117UCSCPH domain
STARTaa 400–619UCSCSTART domain
STARTaa 400–619UCSCSTART domain

Gene Aliases

HGNC Name

ceramide transporter 1

HGNC Previous Symbol

COL4A3BP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001379029.1
p.Q174R
c.521A>G
Surrounding Variants
1 paper
NM_001379029.1
p.R173*
c.517A>T
1 paper
NM_001379029.1
p.C172F
c.515G>T
1 paper
NM_001379029.1
p.T177M
c.530C>T
5 papers
NM_001379029.1
p.F182L
c.544T>C
NM_001130105.1
p.F310L
c.928T>C
5 papers
NM_001379029.1
p.F182L
c.546T>G
NM_001130105.1
p.F310L
c.930T>G
5 papers
NM_001379029.1
p.F182L
c.546T>A
NM_001130105.1
p.F310L
c.930T>A
3 papers
NM_001379029.1
p.T166A
c.496A>G
NM_001130105.1
p.T294A
c.880A>G
1 paper
NM_001379029.1
p.E165A
c.494A>C
1 paper
NM_001379029.1
p.A184V
c.551C>T
1 paper
NM_001379029.1
p.D187E
c.561T>G
1 paper
NM_001379029.1
p.D187E
c.561T>A
1 paper
NM_001379029.1
p.S190C
c.569C>G
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