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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRAM2

Variant:p.Y54*

TRAM2

6p12.2 (UCSC)OMIM GTEx

27 papers

RefSeq Summary

TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membr...

Pfam Domains

TRAM_LAG1_CLN8aa 113–312UCSCTLC domain

Gene Aliases

HGNC Name

translocation associated membrane protein 2

HGNC Alias Symbol

KIAA0057

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr6:52535805 A>C

NM_012288.4

p.Y54*

c.162T>G

exact variant not in gnomAD65 overlapping SVs

Surrounding Variants

chr6:52535805 A>T

NM_012288.4

p.Y54*

c.162T>A

exact variant not in gnomAD65 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."