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.R1923*

c.5767C>T

Surrounding Variants

4 papers

NM_138927.4

p.R1921*

c.5761C>T

2 papers

NM_138927.4

p.R1927C

c.5779C>T

20 papers

NM_138927.4

p.V1918fs

c.5752_5753fs

31 papers

NM_138927.4

p.V1918_R1919delFs

c.5753_5756del4

2 papers

NM_138927.4

p.R1915*

c.5743C>T

1 paper

NM_138927.4

p.R1936C

c.5806C>T

2 papers

NM_138927.4

p.E1903_K1907del5

c.5707_5720del15

1 paper

NM_138927.4

p.S1954_P1960del7

c.5860_5879del21

1 paper

NM_138927.4

p.R1970_R1984del0

c.5910_5951del42

1 paper

NM_138927.4

p.R1955H

c.5864G>A

1 paper

NM_138927.4

p.R1956H

c.5867G>A

1 paper

NM_138927.4

p.S1961R

c.5881A>C