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.E174K

c.520G>A

Surrounding Variants

1 paper

NM_016183.4

p.V166M

c.496G>A

1 paper

NM_016183.4

p.E185G

c.554A>G

1 paper

NM_016183.4

p.E196Q

c.586G>C

1 paper

NM_016183.4

p.I204T

c.611T>C

1 paper

NM_016183.4

p.D220Y

c.658G>T

2 papers

NM_016183.4

p.A226T

c.676G>A

1 paper

NM_016183.4

p.A161T

c.481G>A

1 paper

NM_016183.4

p.M149R

c.446T>G

1 paper

NM_016183.4

p.S148C

c.443C>G

1 paper

NM_016183.4

p.Q144R

c.431A>G

1 paper

NM_016183.4

p.Q144K

c.430C>A

2 papers

NM_016183.4

p.P141S

c.421C>T