Varaico: Literature-Extracted Genetic Variants

Gene:SRRM4
Variant:p.R547S

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
2 papers
NM_194286.4
p.R547S
c.1639C>A
Surrounding Variants
1 paper
NM_194286.4
p.A545D
c.1634C>A
1 paper
NM_194286.4
p.R553Q
c.1658G>A
1 paper
NM_194286.4
p.S558R
c.1672A>C
1 paper
NM_194286.4
p.S558R
c.1674C>A
1 paper
NM_194286.4
p.S558R
c.1674C>G
1 paper
NM_194286.4
p.S532I
c.1595G>T
1 paper
NM_194286.4
p.T566K
c.1697C>A
1 paper
NM_194286.4
p.S569_S570delFs
c.1706_1710del5
1 paper
NM_194286.4
p.S569N
c.1706G>A
1 paper
NM_194286.4
p.K514Q
c.1540A>C
1 paper
NM_194286.4
p.R582P
c.1745G>C
1 paper
NM_194286.4
p.R588_S601del14
c.1762_1802del42
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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."