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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRRM3

Variant:p.C67delFs

SRRM3

7q11.23 (UCSC)OMIM GTEx

45 papers

Pfam Domains

cwf21aa 55–98UCSCcwf21 domain

SRRM_Caa 525–589UCSCSerine/arginine repetitive matrix protein C-terminus

Gene Aliases

HGNC Name

serine/arginine repetitive matrix 3

HGNC Alias Symbol

FLJ37078

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr7:76235266 GC>G

NM_001110199.3

p.C67delFs

c.201delC

exact variant not in gnomAD83 overlapping SVs

Surrounding Variants

chr7:76235223 G>T

NM_001110199.3

p.E53*

c.157G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a83 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."