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.S770T

c.2308T>A

Surrounding Variants

1 paper

NM_138927.4

p.T768S

c.2303C>G

1 paper

NM_138927.4

p.T768S

c.2302A>T

1 paper

NM_138927.4

p.L766fs

c.2296_2297fs

2 papers

NM_138927.4

p.S780T

c.2338T>A

1 paper

NM_138927.4

p.S758T

c.2272T>A

9 papers

NM_138927.4

p.S789delFs

c.2365delA

1 paper

NM_138927.4

p.M751V

c.2251A>G

8 papers

NM_138927.4

p.S789fs

c.2365_2366fs

1 paper

NM_138927.4

p.T790S

c.2368A>T

1 paper

NM_138927.4

p.T790S

c.2369C>G

1 paper

NM_138927.4

p.A747V

c.2240C>T

1 paper

NM_138927.4

p.L746I

c.2236C>A