Varaico: Literature-Extracted Genetic Variants

Gene:SRRM4
Variant:p.H206Y

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.H206Y
c.616C>T
Surrounding Variants
1 paper
NM_194286.4
p.R207H
c.620G>A
1 paper
NM_194286.4
p.R209Q
c.626G>A
1 paper
NM_194286.4
p.R220S
c.660G>C
2 papers
NM_194286.4
p.R223H
c.668G>A
4 papers
NM_194286.4
p.S243N
c.728G>A
1 paper
NM_194286.4
p.L246F
c.736C>T
1 paper
NM_194286.4
p.R205Splc
c.615-453T>A
1 paper
NM_194286.4
p.R198H
c.593G>A
1 paper
NM_194286.4
p.R198C
c.592C>T
1 paper
NM_194286.4
p.E196_S201delFs
c.588_601del14
1 paper
NM_194286.4
p.S195S
c.585G>A
2 papers
NM_194286.4
p.R191W
c.571C>T
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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."