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

Selected Variant

1 paper

NM_016183.4

p.P2delFs

c.4delC

Surrounding Variants

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

2 papers

NM_016183.4

p.G68D

c.203G>A

1 paper

NM_016183.4

p.Q91_V92Splc

c.273+6T>C

1 paper

NM_016183.4

p.E99D

c.297G>C

1 paper

NM_016183.4

p.E99D

c.297G>T