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

9 papers

NM_138927.4

p.T1453delFs

c.4358_4359delCA

Surrounding Variants

5 papers

NM_138927.4

p.T1453fs

c.4357_4358fs

1 paper

NM_138927.4

p.S1443L

c.4328C>T

4 papers

NM_138927.4

p.V1483_M1484delFs

c.4448_4452del5

1 paper

NM_138927.4

p.V1483fs

c.4447_4448fs

1 paper

NM_138927.4

p.E1414delFs

c.4241_4242delAG

1 paper

NM_138927.4

p.I1405V

c.4213A>G

2 papers

NM_138927.4

p.M1502I

c.4506G>A

2 papers

NM_138927.4

p.M1502I

c.4506G>C

2 papers

NM_138927.4

p.M1502I

c.4506G>T

1 paper

NM_138927.4

p.P1400fs

c.4198_4199fs

1 paper

NM_138927.4

p.P1400_D1401delFs

c.4198_4201del4

1 paper

NM_138927.4

p.P1392P

c.4176G>A