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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRAM1

Variant:p.L222I

TRAM1

43 papers

RefSeq Summary

This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory protein...

Pfam Domains

TRAM_LAG1_CLN8aa 118–317UCSCTLC domain

Gene Aliases

HGNC Name

translocation associated membrane protein 1

HGNC Alias Symbol

TRAMP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:70586977 G>T

NM_014294.6

p.L222I

c.664C>A

TRAM_LAG1_CLN8

exact variant not in gnomAD25 overlapping SVs

Surrounding Variants

1 paper

chr8:70587125 C>T

NM_014294.6

p.A208T

c.622G>A

TRAM_LAG1_CLN8

Exome: 0.1% (AC=1030, hom=1)Genome: 0.1% (AC=94, hom=0)25 overlapping SVs

1 paper

chr8:70583754 A>T

NM_014294.6

p.L262L

c.786T>A

TRAM_LAG1_CLN8

exact variant not in gnomAD25 overlapping SVs

1 paper

chr8:70583749 G>A

NM_014294.6

p.T264I

c.791C>T

TRAM_LAG1_CLN8

Exome: 0.0% (AC=163, hom=0)Genome: 0.0% (AC=19, hom=0)25 overlapping SVs

1 paper

chr8:70583712 A>C

NM_014294.6

p.L276L

c.828T>G

TRAM_LAG1_CLN8

exact variant not in gnomAD25 overlapping SVs

1 paper

chr8:70583683 A>C

NM_014294.6

p.F286C

c.857T>G

TRAM_LAG1_CLN8

Exome: 0.0% (AC=361, hom=1)Genome: 0.0% (AC=40, hom=0)25 overlapping SVs

1 paper

chr8:70596285 C>G

NM_014294.6

p.A155P

c.463G>C

TRAM_LAG1_CLN8

exact variant not in gnomAD25 overlapping SVs

1 paper

chr8:70596318 T>C

NM_014294.6

p.N144D

c.430A>G

TRAM_LAG1_CLN8

Exome: 0.1% (AC=1884, hom=31)Genome: 1.2% (AC=1787, hom=32)25 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."