Varaico: Literature-Extracted Genetic Variants

Gene:SRRM4
Variant:p.V52F

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.V52F
c.154G>T
Surrounding Variants
1 paper
NM_194286.4
p.V52D
c.155T>A
1 paper
NM_194286.4
p.V52A
c.155T>C
1 paper
NM_194286.4
p.P54T
c.160C>A
1 paper
NM_194286.4
p.A55A
c.165T>A
1 paper
NM_194286.4
p.A55A
c.165T>C
2 papers
NM_194286.4
p.P47L
c.140C>T
1 paper
NM_194286.4
p.D57A
c.170A>C
1 paper
NM_194286.4
p.D57G
c.170A>G
1 paper
NM_194286.4
p.T69T
c.207C>T
1 paper
NM_194286.4
p.E70K
c.208G>A
1 paper
NM_194286.4
p.R84L
c.251G>T
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