Varaico: Literature-Extracted Genetic Variants

Gene:FAM136A

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
1–12 of 57 variants
5 papers
NM_001329752.2
p.D88H
c.262G>C
5 papers
NM_001329752.2
p.L134P
c.401T>C
5 papers
NM_001329752.2
p.D195H
c.583G>C
5 papers
NM_001329752.2
p.M236T
c.707T>C
5 papers
NM_001329752.2
p.M236I
c.708G>T
5 papers
NM_001329752.2
p.M236I
c.708G>C
5 papers
NM_001329752.2
p.M236I
c.708G>A
4 papers
NM_001329752.2
p.R110insFs
c.329_330ins4
4 papers
NM_001329752.2
p.L241S
c.722T>C
3 papers
NM_001329752.2
p.Q108_E109delFs
c.323_326del4
3 papers
NM_001329752.2
p.Q121E
c.361C>G
3 papers
NM_001329752.2
p.R185C
c.553C>T
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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."