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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UCMA

UCMA

64 papers

RefSeq Summary

This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes prote...

Pfam Domains

UCMAaa 1–134UCSCUnique cartilage matrix associated protein

Gene Aliases

HGNC Name

upper zone of growth plate and cartilage matrix associated

HGNC Previous Symbol

C10orf49

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 85 variants

3 papers

chr10:13234247 T>A

NM_145314.3

p.R4S

c.12A>T

UCMA

exact variant not in gnomAD21 overlapping SVs

3 papers

chr10:13234247 T>G

NM_145314.3

p.R4S

c.12A>C

UCMA

exact variant not in gnomAD21 overlapping SVs

3 papers

chr10:13229628 A>G

NM_145314.3

p.V101A

c.302T>C

UCMA

Exome: 0.0% (AC=513, hom=5)Genome: 0.3% (AC=520, hom=5)18 overlapping SVs

2 papers

chr10:13233567 C>T

NM_145314.3

p.R64Q

c.191G>A

UCMA

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=8, hom=0)21 overlapping SVs

2 papers

chr10:13233546 T>A

NM_145314.3

p.E71V

c.212A>T

UCMA

Exome: 0.0% (AC=486, hom=6)Genome: 0.3% (AC=530, hom=5)21 overlapping SVs

2 papers

chr10:13222200 T>C

NM_145314.3

p.E107G

c.320A>G

UCMA

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=3, hom=0)17 overlapping SVs

2 papers

chr10:13222170 T>C

NM_145314.3

p.E117G

c.350A>G

UCMA

Exome: 0.0% (AC=212, hom=0)Genome: 0.0% (AC=23, hom=0)17 overlapping SVs

2 papers

chr10:13222162 G>A

NM_145314.3

p.R120C

c.358C>T

UCMA

Exome: 0.0% (AC=209, hom=3)Genome: 0.0% (AC=11, hom=0)17 overlapping SVs

2 papers

chr10:13222128 T>C

NM_145314.3

p.Y131C

c.392A>G

UCMA

Exome: 0.0% (AC=13, hom=0)Genome: n/a17 overlapping SVs

2 papers

chr10:13222117 G>A

NM_145314.3

p.R135C

c.403C>T

UCMA

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=2, hom=0)17 overlapping SVs

1 paper

chr10:13234257 A>T

NM_145314.3

p.M1K

c.2T>A

UCMA

exact variant not in gnomAD19 overlapping SVs

1 paper

chr10:13234251 C>T

NM_145314.3

p.W3*

c.8G>A

UCMA

Exome: 0.0% (AC=1, hom=0)Genome: n/a20 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."