Varaico: Literature-Extracted Genetic Variants

MRTO4

31 papers

RefSeq Summary

This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in m...

Pfam Domains

Ribosomal_L10aa 18–121UCSCRibosomal protein L10

RL10P_insertaa 125–194UCSCInsertion domain in 60S ribosomal protein L10P

Gene Aliases

HGNC Name

MRT4 homolog, ribosome maturation factor

HGNC Previous Symbol

C1orf33

Papers

RefSeq ID

Protein change

DNA change

1–12 of 29 variants

2 papers

NM_016183.4

p.G68D

c.203G>A

2 papers

NM_016183.4

p.P141S

c.421C>T

2 papers

NM_016183.4

p.A226T

c.676G>A

1 paper

NM_016183.4

p.P2delFs

c.4delC

1 paper

NM_016183.4

p.P2R

c.5C>G

1 paper

NM_016183.4

p.E29Q

c.85G>C

1 paper

NM_016183.4

p.E29_L30Splc

c.87+4A>C

1 paper

NM_016183.4

p.R31Q

c.92G>A

1 paper

NM_016183.4

p.T36A

c.106A>G

1 paper

NM_016183.4

p.S44Y

c.131C>A

1 paper

NM_016183.4

p.S44C

c.131C>G

1 paper

NM_016183.4

p.K54M

c.161A>T