Varaico: Literature-Extracted Genetic Variants

Gene:FAM136A
Variant:p.N36T

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.N36T
c.107A>C
Surrounding Variants
1 paper
NM_001329752.2
p.N36_Q37delFs
c.108_109delGG
1 paper
NM_001329752.2
p.V30E
c.89T>A
1 paper
NM_001329752.2
p.G47A
c.140G>C
2 papers
NM_001329752.2
p.V9M
c.25G>A
1 paper
NM_001329752.2
p.R8Q
c.23G>A
1 paper
NM_001329752.2
p.G78V
c.233G>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.D80Y
c.238G>T
1 paper
NM_001329752.2
p.F81L
c.241T>C
1 paper
NM_001329752.2
p.F81L
c.243C>G
1 paper
NM_001329752.2
p.F81L
c.243C>A
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