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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRIM49D1

TRIM49D1

11q14.3 (UCSC)GTEx

3 papers

Pfam Domains

zf-C3HC4_4aa 15–55UCSCzinc finger of C3HC4-type, RING

zf-C3HC4_4aa 15–55UCSCzinc finger of C3HC4-type, RING

zf-B_boxaa 88–129UCSCB-box zinc finger

zf-B_boxaa 88–129UCSCB-box zinc finger

SPRYaa 340–451UCSCSPRY domain

SPRYaa 340–451UCSCSPRY domain

Gene Aliases

HGNC Name

tripartite motif containing 49D1

HGNC Previous Symbols

TRIM49DP; TRIM49D1P

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr11:89912083 T>C

NM_001384911.1

p.D288G

c.863A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)35 overlapping SVs

chr11:89911956 T>C

NM_001384911.1

p.A330A

c.990A>G

exact variant not in gnomAD35 overlapping SVs

chr11:89911761 G>T

NM_001384911.1

p.S395S

c.1185C>A

exact variant not in gnomAD35 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."