Varaico: Literature-Extracted Genetic Variants

Gene:SRRM4
Variant:p.R44Splc

SRRM4

76 papers

RefSeq Summary

SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009].

Pfam Domains

SRRM_Caa 457–522UCSCSerine/arginine repetitive matrix protein C-terminus

Gene Aliases

HGNC Name

serine/arginine repetitive matrix 4

HGNC Previous Symbol

KIAA1853

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_194286.4
p.R44Splc
c.132-13685T>C
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