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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SRSF4

Variant:p.E15K

SRSF4

1p35.3 (UCSC)OMIM GTEx

83 papers

Pfam Domains

RRM_1aa 4–66UCSCRNA recognition motif

RRM_1aa 106–171UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 4

HGNC Previous Symbol

SFRS4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr1:29181710 C>T

NM_005626.5

p.E15K

c.43G>A

exact variant not in gnomAD132 overlapping SVs

Surrounding Variants

chr1:29181666 C>G

NM_005626.5

p.L29L

c.87G>C

exact variant not in gnomAD132 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."