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

10 papers

NM_138927.4

p.R1881_G1882del2

c.5641_5645del6

Surrounding Variants

1 paper

NM_138927.4

p.G1882G

c.5646A>C

1 paper

NM_138927.4

p.R1869H

c.5606G>A

2 papers

NM_138927.4

p.E1903_K1907del5

c.5707_5720del15

3 papers

NM_138927.4

p.R1850fs

c.5548_5549fs

7 papers

NM_138927.4

p.R1850delFs

c.5549_5550delGA

2 papers

NM_138927.4

p.R1915*

c.5743C>T

31 papers

NM_138927.4

p.V1918_R1919delFs

c.5753_5756del4

8 papers

NM_138927.4

p.S1843Y

c.5528C>A

20 papers

NM_138927.4

p.V1918fs

c.5752_5753fs

4 papers

NM_138927.4

p.R1921*

c.5761C>T

1 paper

NM_138927.4

p.R1839H

c.5516G>A

1 paper

NM_138927.4

p.R1923*

c.5767C>T