Varaico: Literature-Extracted Genetic Variants

Gene:LETMD1

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
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
5 papers
NM_015416.5
p.V84I
c.250G>A
1 paper
NM_015416.5
p.G15fs
c.43_44fs
1 paper
NM_015416.5
p.G15D
c.44G>A
1 paper
NM_015416.5
p.V24I
c.70G>A
1 paper
NM_015416.5
p.L45R
c.134T>G
1 paper
NM_015416.5
p.H46Q
c.138C>A
1 paper
NM_015416.5
p.V60A
c.179T>C
1 paper
NM_015416.5
p.Y83F
c.248A>T
1 paper
NM_015416.5
p.L85P
c.254T>C
1 paper
NM_015416.5
p.D99N
c.295G>A
1 paper
NM_015416.5
p.W111R
c.331T>A
1 paper
NM_015416.5
p.W111R
c.331T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."