Varaico: Literature-Extracted Genetic Variants

MRPL44

49 papers

RefSeq Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit a...

Pfam Domains

RM44_endonuclaseaa 67–202UCSCLarge ribosomal subunit protein mL44, endonuclease domain

DSRM_MRPL44aa 232–332UCSCMRPL44 dsRNA-binding domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L44

HGNC Alias Symbols

FLJ12701; FLJ13990; mL44

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022915.5

p.R60Splc

c.179+3A>G

Surrounding Variants

1 paper

NM_022915.5

p.W66R

c.196T>A

1 paper

NM_022915.5

p.W66R

c.196T>C

1 paper

NM_022915.5

p.W66_H69delins

c.198_205delinsGGATTACC

1 paper

NM_022915.5

p.W66_H69delins

c.198_205delinsTA

1 paper

NM_022915.5

p.Q73*

c.217C>T

5 papers

NM_022915.5

p.R78Q

c.233G>A

1 paper

NM_022915.5

p.A91P

c.271G>C

1 paper

NM_022915.5

p.R105_Q106delFs

c.314_318del5

1 paper

NM_022915.5

p.Q106*

c.316C>T

1 paper

NM_022915.5

p.G109R

c.325G>A

1 paper

NM_022915.5

p.T138I

c.413C>T

2 papers

NM_022915.5

p.L156P

c.467T>C