Varaico: Literature-Extracted Genetic Variants

Gene:FAM136A
Variant:p.F81L

FAM136A

45 papers

RefSeq Summary

This gene encodes a mitochondrially localized protein that is highly conserved across species. The gene is expressed in a variety of tissues including human lymphoblast cells and rat neurosensorial ep...

Pfam Domains

DUF842aa 130–239UCSCEukaryotic protein of unknown function (DUF842)

Gene Aliases

HGNC Name

family with sequence similarity 136 member A

HGNC Alias Symbol

FLJ14668

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001329752.2
p.F81L
c.243C>A
Surrounding Variants
1 paper
NM_001329752.2
p.F81L
c.243C>G
1 paper
NM_001329752.2
p.F81L
c.241T>C
1 paper
NM_001329752.2
p.D80Y
c.238G>T
1 paper
NM_001329752.2
p.Q79insFs
c.236_237ins4
1 paper
NM_001329752.2
p.Q79delFs
c.235delG
1 paper
NM_001329752.2
p.G78V
c.233G>T
5 papers
NM_001329752.2
p.D88H
c.262G>C
1 paper
NM_001329752.2
p.R98R
c.294G>A
1 paper
NM_001329752.2
p.P106L
c.317C>T
2 papers
NM_001329752.2
p.Q108L
c.323A>T
3 papers
NM_001329752.2
p.Q108_E109delFs
c.323_326del4
1 paper
NM_001329752.2
p.Q108_E109del2
c.322_326del6
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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."