Varaico: Literature-Extracted Genetic Variants

Gene:SRRM4
Variant:p.E13Q

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.E13Q
c.37G>C
Surrounding Variants
1 paper
NM_194286.4
p.S3N
c.8G>A
1 paper
NM_194286.4
p.K40N
c.120G>C
1 paper
NM_194286.4
p.P43A
c.127C>G
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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."