Varaico: Literature-Extracted Genetic Variants

Gene:FAM136A
Variant:p.L214P

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
3 papers
NM_001329752.2
p.L214P
c.641T>C
Surrounding Variants
3 papers
NM_001329752.2
p.L214L
c.642G>A
2 papers
NM_001329752.2
p.D215V
c.644A>T
1 paper
NM_001329752.2
p.D215fs
c.643_644fs
1 paper
NM_001329752.2
p.S216G
c.646A>G
1 paper
NM_001329752.2
p.D215_S216delFs
c.644_647del4
1 paper
NM_001329752.2
p.C217fs
c.649_650fs
1 paper
NM_001329752.2
p.C217Fs
c.651delinsGCTGTFs
2 papers
NM_001329752.2
p.C217insFs
c.650_651ins4
1 paper
NM_001329752.2
p.C217fs
c.649_650fs
2 papers
NM_032822.3
p.L121V
c.361C>G
NM_001329752.2
p.L228V
c.682C>G
1 paper
NM_001329752.2
p.D195insFs
c.584_585ins4
5 papers
NM_001329752.2
p.D195H
c.583G>C
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