Varaico: Literature-Extracted Genetic Variants

SON

320 papers

RefSeq Summary

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also re...

Pfam Domains

G-patchaa 333–377UCSCG-patch domain

DND1_DSRMaa 398–451UCSCdouble strand RNA binding domain from DEAD END PROTEIN 1

RSRPaa 1906–2198UCSCArginine/Serine-Rich protein 1

Gene Aliases

HGNC Name

SON DNA and RNA binding protein

HGNC Previous Symbol

C21orf50

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_138927.4

p.S259*

c.776C>G

Surrounding Variants

2 papers

NM_138927.4

p.S259*

c.776C>A

1 paper

NM_138927.4

p.T252S

c.755C>G

1 paper

NM_138927.4

p.I241V

c.721A>G

1 paper

NM_138927.4

p.M238V

c.712A>G

1 paper

NM_138927.4

p.A231P

c.691G>C

1 paper

NM_138927.4

p.P295insFs

c.884dupC

4 papers

NM_138927.4

p.S223L

c.668C>T

1 paper

NM_138927.4

p.V296fs

c.886_887fs

1 paper

NM_138927.4

p.I222L

c.664A>C

1 paper

NM_138927.4

p.L214insFs

c.640_641insT

1 paper

NM_138927.4

p.V308I

c.922G>A

1 paper

NM_138927.4

p.S309_S310insCT

c.925_929ins6