Varaico: Literature-Extracted Genetic Variants

RPS4X

62 papers

RefSeq Summary

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 st...

Pfam Domains

RS4NTaa 3–39UCSCRS4NT (NUC023) domain

Ribosomal_S4eaa 95–169UCSCRibosomal family S4e

KOWaa 177–211UCSCKOW motif

40S_S4_Caa 212–259UCSC40S ribosomal protein S4 C-terminus

Gene Aliases

HGNC Name

ribosomal protein S4 X-linked

HGNC Alias Symbols

DXS306; CCG2; SCAR; SCR10; FLJ40595; RPS4; eS4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001007.5

p.L48R

c.143T>G

Surrounding Variants

1 paper

NM_001007.5

p.I46M

c.138T>G

1 paper

NM_001007.5

p.R51K

c.152G>A

1 paper

NM_001007.5

p.E40V

c.119A>T

1 paper

NM_001007.5

p.P35insFs

c.104_105insA

1 paper

NM_001007.5

p.C65Y

c.194G>A

1 paper

NM_001007.5

p.R68Q

c.203G>A

1 paper

NM_001007.5

p.F69L

c.205T>C

1 paper

NM_001007.5

p.F69L

c.207C>G

1 paper

NM_001007.5

p.F69L

c.207C>A

1 paper

NM_001007.5

p.G74V

c.221G>T

1 paper

NM_001007.5

p.P5insFs

c.13_14insA

1 paper

NM_001007.5

p.R3H

c.8G>A