Varaico: Literature-Extracted Genetic Variants

Gene:SRRM4
Variant:p.T510A

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.T510A
c.1528A>G
Surrounding Variants
1 paper
NM_194286.4
p.S511Splc
c.1532+1G>A
1 paper
NM_194286.4
p.S491W
c.1472C>G
1 paper
NM_194286.4
p.R485Q
c.1454G>A
1 paper
NM_194286.4
p.R485W
c.1453C>T
1 paper
NM_194286.4
p.R478W
c.1432C>T
1 paper
NM_194286.4
p.Y429C
c.1286A>G
1 paper
NM_194286.4
p.K514Q
c.1540A>C
1 paper
NM_194286.4
p.S532I
c.1595G>T
1 paper
NM_194286.4
p.A545D
c.1634C>A
2 papers
NM_194286.4
p.R547S
c.1639C>A
1 paper
NM_194286.4
p.R553Q
c.1658G>A
1 paper
NM_194286.4
p.S558R
c.1672A>C
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