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

1–12 of 433 variants

31 papers

NM_138927.4

p.V1918_R1919delFs

c.5753_5756del4

20 papers

NM_138927.4

p.V1918fs

c.5752_5753fs

13 papers

NM_138927.4

p.R1112*

c.3334C>T

11 papers

NM_138927.4

p.M1284_S1286delFs

c.3852_3856del5

10 papers

NM_138927.4

p.T627_G628delFs

c.1881_1882delAG

10 papers

NM_138927.4

p.V629fs

c.1885_1886fs

10 papers

NM_138927.4

p.P1352delFs

c.4055delC

10 papers

NM_138927.4

p.H1547delFs

c.4640delA

10 papers

NM_138927.4

p.R1881_G1882del2

c.5641_5645del6

9 papers

NM_138927.4

p.S789delFs

c.2365delA

9 papers

NM_138927.4

p.M1025insFs

c.3073dupA

9 papers

NM_138927.4

p.T1453delFs

c.4358_4359delCA