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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LETMD1

Variant:p.N354S

LETMD1

27 papers

RefSeq Summary

This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced tr...

Pfam Domains

LETM1_RBDaa 120–350UCSCLETM1-like, RBD

Gene Aliases

HGNC Name

LETM1 domain containing 1

HGNC Alias Symbols

HCCR1; HCCR; HCCR-2; HCCR-1; HCCR2; SLC55A3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:51059409 A>G

NM_015416.5

p.N354S

c.1061A>G

Exome: 0.0% (AC=12, hom=0)Genome: n/a26 overlapping SVs

Surrounding Variants

1 paper

chr12:51059411 T>G

NM_015416.5

p.Y355D

c.1063T>G

exact variant not in gnomAD26 overlapping SVs

1 paper

chr12:51058084 G>A

NM_015416.5

p.R323Q

c.968G>A

LETM1_RBD

Exome: 0.3% (AC=5007, hom=9)Genome: 0.2% (AC=344, hom=0)26 overlapping SVs

1 paper

chr12:51056363 G>A

NM_015416.5

p.R259Q

c.776G>A

LETM1_RBD

Exome: 0.0% (AC=49, hom=0)Genome: 0.0% (AC=22, hom=0)26 overlapping SVs

1 paper

chr12:51055920 C>T

NM_015416.5

p.R187W

c.559C>T

LETM1_RBD

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=1, hom=0)26 overlapping SVs

1 paper

chr12:51055900 T>C

NM_015416.5

p.L180S

c.539T>C

LETM1_RBD

Exome: 0.0% (AC=641, hom=5)Genome: 0.4% (AC=622, hom=4)26 overlapping SVs

1 paper

chr12:51052148 T>A

NM_015416.5

p.W111R

c.331T>A

LETM1_RBD

exact variant not in gnomAD29 overlapping SVs

1 paper

chr12:51052148 T>C

NM_015416.5

p.W111R

c.331T>C

LETM1_RBD

exact variant not in gnomAD29 overlapping SVs

1 paper

chr12:51052112 G>A

NM_015416.5

p.D99N

c.295G>A

LETM1_RBD

exact variant not in gnomAD29 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."