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.P960A

c.2878C>G

Surrounding Variants

1 paper

NM_138927.4

p.H939Y

c.2815C>T

1 paper

NM_138927.4

p.P934A

c.2800C>G

1 paper

NM_138927.4

p.D933G

c.2798A>G

1 paper

NM_138927.4

p.M992del1

c.2974_2975delATG

1 paper

NM_138927.4

p.L993V

c.2977T>G

1 paper

NM_138927.4

p.S995C

c.2984C>G

5 papers

NM_138927.4

p.Y921*

c.2763C>A

5 papers

NM_138927.4

p.Y921*

c.2763C>G

1 paper

NM_138927.4

p.D919G

c.2756A>G

1 paper

NM_138927.4

p.D919N

c.2755G>A

1 paper

NM_138927.4

p.Q918P

c.2753A>C

1 paper

NM_138927.4

p.L916I

c.2746T>A