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

8 papers

NM_138927.4

p.V1199_P1200insFs

c.3597_3598dupGC

Surrounding Variants

1 paper

NM_138927.4

p.V1199_P1200delFs

c.3597_3598delGC

6 papers

NM_138927.4

p.P1200fs

c.3598_3599fs

2 papers

NM_138927.4

p.S1202L

c.3605C>T

2 papers

NM_138927.4

p.Q1186*

c.3556C>T

1 paper

NM_138927.4

p.V1215E

c.3644T>A

1 paper

NM_138927.4

p.L1182_P1183insGC

c.3544_3548ins6

3 papers

NM_138927.4

p.P1237delFs

c.3711delC

2 papers

NM_138927.4

p.S1238fs

c.3712_3713fs

1 paper

NM_138927.4

p.P1159R

c.3476C>G

2 papers

NM_138927.4

p.P1159fs

c.3475_3476fs

2 papers

NM_138927.4

p.P1159delFs

c.3476delC

1 paper

NM_138927.4

p.P1158_P1159insGC

c.3472_3476ins6