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

2 papers

NM_138927.4

p.M1502I

c.4506G>T

Surrounding Variants

2 papers

NM_138927.4

p.M1502I

c.4506G>A

2 papers

NM_138927.4

p.M1502I

c.4506G>C

7 papers

NM_138927.4

p.E1517insFs

c.4549dupG

3 papers

NM_138927.4

p.E1517fs

c.4549_4550fs

1 paper

NM_138927.4

p.G1521G

c.4563T>C

1 paper

NM_138927.4

p.V1483fs

c.4447_4448fs

4 papers

NM_138927.4

p.V1483_M1484delFs

c.4448_4452del5

1 paper

NM_138927.4

p.H1528R

c.4583A>G

10 papers

NM_138927.4

p.H1547delFs

c.4640delA

7 papers

NM_138927.4

p.H1547fs

c.4639_4640fs

5 papers

NM_138927.4

p.T1453fs

c.4357_4358fs

9 papers

NM_138927.4

p.T1453delFs

c.4358_4359delCA