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

4 papers

NM_138927.4

p.N116_K117delFs

c.348_351del4

Surrounding Variants

3 papers

NM_138927.4

p.N116fs

c.346_347fs

1 paper

NM_138927.4

p.N116K

c.348C>A

1 paper

NM_138927.4

p.N116K

c.348C>G

1 paper

NM_138927.4

p.K112T

c.335A>C

1 paper

NM_138927.4

p.K118R

c.353A>G

1 paper

NM_138927.4

p.H111R

c.332A>G

1 paper

NM_138927.4

p.K109fs

c.325_326fs

5 papers

NM_138927.4

p.K109_K110delFs

c.326_329del4

1 paper

NM_138927.4

p.S108fs

c.322_323fs

1 paper

NM_138927.4

p.K123R

c.368A>G

1 paper

NM_138927.4

p.T105A

c.313A>G

3 papers

NM_138927.4

p.K128delFs

c.384delA