Varaico: Literature-Extracted Genetic Variants

Gene:FAM136A
Variant:p.L241S

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
4 papers
NM_001329752.2
p.L241S
c.722T>C
Surrounding Variants
1 paper
NM_001329752.2
p.S242S
c.726A>C
3 papers
NM_001329752.2
p.A239P
c.715G>C
1 paper
NM_001329752.2
p.G244G
c.732A>G
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
5 papers
NM_001329752.2
p.M236T
c.707T>C
1 paper
NM_032822.3
p.M129V
c.385A>G
1 paper
NM_001329752.2
p.M236_K237ins4
c.706_710ins12
2 papers
NM_032822.3
p.L121V
c.361C>G
NM_001329752.2
p.L228V
c.682C>G
1 paper
NM_001329752.2
p.C217Fs
c.651delinsGCTGTFs
2 papers
NM_001329752.2
p.C217insFs
c.650_651ins4
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