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.R1955H

c.5864G>A

Surrounding Variants

1 paper

NM_138927.4

p.R1956H

c.5867G>A

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.S1961R

c.5881A>C

1 paper

NM_138927.4

p.S1961R

c.5883C>A

1 paper

NM_138927.4

p.S1961R

c.5883C>G

1 paper

NM_138927.4

p.R1970_S1971delFs

c.5910_5911delCA

1 paper

NM_138927.4

p.S1971fs

c.5911_5912fs

1 paper

NM_138927.4

p.R1936C

c.5806C>T

1 paper

NM_138927.4

p.P1981_P1988del0

c.5943_5963del21

2 papers

NM_138927.4

p.R1927C

c.5779C>T

1 paper

NM_138927.4

p.R1984_R1990del0

c.5950_5970del21