Varaico: Literature-Extracted Genetic Variants

Gene:SRRM4
Variant:p.R406*

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.R406*
c.1216C>T
Surrounding Variants
1 paper
NM_194286.4
p.R406Q
c.1217G>A
1 paper
NM_194286.4
p.S404L
c.1211C>T
1 paper
NM_194286.4
p.R420*
c.1258C>T
1 paper
NM_194286.4
p.R427fs
c.1279_1280fs
1 paper
NM_194286.4
p.K372_S375delFs
c.1115_1125del11
1 paper
NM_194286.4
p.E370K
c.1108G>A
1 paper
NM_194286.4
p.C368Y
c.1103G>A
1 paper
NM_194286.4
p.Y429C
c.1286A>G
1 paper
NM_194286.4
p.R478W
c.1432C>T
1 paper
NM_194286.4
p.R485W
c.1453C>T
1 paper
NM_194286.4
p.R485Q
c.1454G>A
1 paper
NM_194286.4
p.S491W
c.1472C>G
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