Varaico: Literature-Extracted Genetic Variants

Gene:RPL7
Variant:p.E5fs

RPL7

30 papers

RefSeq Summary

Ribosomes, the 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 structural...

Pfam Domains

Ribosomal_L30_Naa 14–85UCSCRibosomal L30 N-terminal domain
Ribosomal_L30aa 90–140UCSCRibosomal protein L30p/L7e

Gene Aliases

HGNC Name

ribosomal protein L7

HGNC Alias Symbols

humL7-1; L7; uL30

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000971.4
p.E5fs
c.13_14fs
Surrounding Variants
1 paper
NM_000971.4
p.E5Q
c.13G>C
1 paper
NM_000971.4
p.V4V
c.12A>T
1 paper
NM_000971.4
p.E5Q
c.13G>C
2 papers
NM_000971.4
p.K7fs
c.19_20fs
2 papers
NM_000971.4
p.K7delFs
c.20delT
1 paper
NM_000971.4
p.A13V
c.38C>T
1 paper
NM_000971.4
p.E27K
c.79G>A
1 paper
NM_000971.4
p.L33P
c.98T>C
1 paper
NM_000971.4
p.K36E
c.106A>G
1 paper
NM_000971.4
p.K55E
c.163A>G
1 paper
NM_000971.4
p.Y57D
c.169T>G
1 paper
NM_000971.4
p.E60K
c.178G>A
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