Varaico: Literature-Extracted Genetic Variants

Gene:MRPL14
Variant:p.G112fs

MRPL14

16 papers

RefSeq Summary

This nuclear gene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudogene of this gene is found on chromosome 17. [provided by RefSeq, Jan 2016].

Pfam Domains

Ribosomal_L14aa 31–145UCSCRibosomal protein L14p/L23e

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L14

HGNC Alias Symbols

RPML32; MRP-L32; uL14m

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032111.4
p.G112fs
c.334_335fs
Surrounding Variants
2 papers
NM_032111.4
p.F100F
c.300C>T
1 paper
NM_032111.4
p.M91K
c.272T>A
1 paper
NM_032111.4
p.G70G
c.210C>T
1 paper
NM_032111.4
p.G65E
c.194G>A
1 paper
NM_032111.4
p.A54T
c.160G>A
1 paper
NM_032111.4
p.N48D
c.142A>G
1 paper
NM_032111.4
p.A45V
c.134C>T
1 paper
NM_032111.4
p.R37L
c.110G>T
1 paper
NM_032111.4
p.Q33*
c.97C>T
2 papers
NM_032111.4
p.S30N
c.89G>A
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