Varaico: Literature-Extracted Genetic Variants

Gene:CLVS2
Variant:p.R48H

CLVS2

22 papers

RefSeq Summary

This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosome...

Pfam Domains

CRAL_TRIO_Naa 15–74UCSCCRAL/TRIO, N-terminal domain
CRAL_TRIOaa 101–251UCSCCRAL/TRIO domain

Gene Aliases

HGNC Name

clavesin 2

HGNC Previous Symbols

C6orf212; C6orf213; RLBP1L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001010852.4
p.R48H
c.143G>A
Surrounding Variants
2 papers
NM_001010852.4
p.R48G
c.142C>G
1 paper
NM_001010852.4
p.D43Y
c.127G>T
1 paper
NM_001010852.4
p.P42Q
c.125C>A
1 paper
NM_001010852.4
p.R56C
c.166C>T
1 paper
NM_001010852.4
p.R59Q
c.176G>A
1 paper
NM_001010852.4
p.A73A
c.219G>A
1 paper
NM_001010852.4
p.N21S
c.62A>G
1 paper
NM_001010852.4
p.Q81H
c.243G>C
1 paper
NM_001010852.4
p.Q81H
c.243G>T
1 paper
NM_001010852.4
p.A124G
c.371C>G
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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."