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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPL12

RPL12

54 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_L11_Naa 13–69UCSCRibosomal protein L11, N-terminal domain

Ribosomal_L11aa 73–143UCSCRibosomal protein L11, RNA binding domain

Gene Aliases

HGNC Name

ribosomal protein L12

HGNC Alias Symbols

L12; uL11

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 29 variants

1 paper

chr9:127451317 CAT>N

NM_000976.4

p.M1fs

c.1_2fs

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127451307 T>A

NM_000976.4

p.K4M

c.11A>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr9:127451305 A>G

NM_000976.4

p.F5L

c.13T>C

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127451305 A>T

NM_000976.4

p.F5I

c.13T>A

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127451295 T>A

NM_000976.4

p.N8I

c.23A>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr9:127451295 T>C

NM_000976.4

p.N8S

c.23A>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr9:127451280 CCGACTTTGATCTCGTTGGGGTCGAACTTCGGCGGCAT>C

NM_000976.4

p.M1_V13delFs

c.1_37del37

Ribosomal_L11_N

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127450793 A>T

NM_000976.4

p.C17S

c.49T>A

Ribosomal_L11_N

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127450792 C>G

NM_000976.4

p.C17S

c.50G>C

Ribosomal_L11_N

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127450788 G>T

NM_000976.4

p.T18T

c.54C>A

Ribosomal_L11_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr9:127450773 A>T

NM_000976.4

p.G23G

c.69T>A

Ribosomal_L11_N

exact variant not in gnomAD10 overlapping SVs

1 paper

chr9:127450744 C>G

NM_000976.4

p.G33A

c.98G>C

Ribosomal_L11_N

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

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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."