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

1 paper

NM_138927.4

p.G1319A

c.3956G>C

Surrounding Variants

2 papers

NM_138927.4

p.G1319_H1320insA

c.3955_3959ins3

1 paper

NM_138927.4

p.V1321_P1332del12

c.3961_3995del36

1 paper

NM_138927.4

p.A1309T

c.3925G>A

1 paper

NM_138927.4

p.P1332A

c.3994C>G

4 papers

NM_138927.4

p.A1340delFs

c.4018delG

1 paper

NM_138927.4

p.A1340fs

c.4018_4019fs

1 paper

NM_138927.4

p.P1289P

c.3867C>T

10 papers

NM_138927.4

p.P1352delFs

c.4055delC

7 papers

NM_138927.4

p.P1352fs

c.4054_4055fs

1 paper

NM_138927.4

p.M1284V

c.3850A>G

7 papers

NM_138927.4

p.M1284fs

c.3850_3851fs

11 papers

NM_138927.4

p.M1284_S1286delFs

c.3852_3856del5