Varaico: Literature-Extracted Genetic Variants

Gene:RPL7A
Variant:p.E165Q

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.E165Q
c.493G>C
Surrounding Variants
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.R175H
c.524G>A
1 paper
NM_000972.3
p.E119Q
c.355G>C
1 paper
NM_000972.3
p.A118G
c.353C>G
1 paper
NM_000972.3
p.L115M
c.343T>A
1 paper
NM_000972.3
p.V194I
c.580G>A
1 paper
NM_000972.3
p.I69V
c.205A>G
1 paper
NM_000972.3
p.A68_Y71delFs
c.203_212del10
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