Varaico: Literature-Extracted Genetic Variants

Gene:FAM136A
Variant:p.L134P

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
5 papers
NM_001329752.2
p.L134P
c.401T>C
Surrounding Variants
1 paper
NM_001329752.2
p.P135R
c.404C>G
3 papers
NM_001329752.2
p.Q121E
c.361C>G
1 paper
NM_001329752.2
p.V115M
c.343G>A
1 paper
NM_001329752.2
p.R110_P111insFs
c.330_331ins4
4 papers
NM_001329752.2
p.R110insFs
c.329_330ins4
1 paper
NM_001329752.2
p.Q108_E109del2
c.322_326del6
3 papers
NM_001329752.2
p.Q108_E109delFs
c.323_326del4
2 papers
NM_001329752.2
p.Q108L
c.323A>T
1 paper
NM_001329752.2
p.P106L
c.317C>T
1 paper
NM_001329752.2
p.R98R
c.294G>A
5 papers
NM_001329752.2
p.D88H
c.262G>C
1 paper
NM_001329752.2
p.F81L
c.243C>G
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