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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLVS2

Variant:p.D150Y

CLVS2

6q22.31 (UCSC)OMIM GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr6:123011043 G>T

NM_001010852.4

p.D150Y

c.448G>T

exact variant not in gnomAD82 overlapping SVs

Surrounding Variants

chr6:123010989 A>T

NM_001010852.4

p.T132S

c.394A>T

exact variant not in gnomAD82 overlapping SVs

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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."