Varaico: Literature-Extracted Genetic Variants

Gene:RPL7A
Variant:p.R249H

RPL7A

43 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

Ribosomal_L7Aeaa 122–216UCSCRibosomal protein L7Ae/L30e/S12e/Gadd45 family

Gene Aliases

HGNC Name

ribosomal protein L7a

HGNC Alias Symbols

SURF3; TRUP; L7A; eL8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000972.3
p.R249H
c.746G>A
Surrounding Variants
1 paper
NM_000972.3
p.Y230Y
c.690C>T
1 paper
NM_000972.3
p.E220G
c.659A>G
1 paper
NM_000972.3
p.L218L
c.654G>T
1 paper
NM_000972.3
p.V194I
c.580G>A
1 paper
NM_000972.3
p.R175H
c.524G>A
1 paper
NM_000972.3
p.E165Q
c.493G>C
1 paper
NM_000972.3
p.E148D
c.444G>C
1 paper
NM_000972.3
p.E148D
c.444G>T
1 paper
NM_000972.3
p.E148*
c.442G>T
1 paper
NM_000972.3
p.V128I
c.382G>A
1 paper
NM_000972.3
p.D127N
c.379G>A
1 paper
NM_000972.3
p.E119Q
c.355G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."