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

3 papers

NM_138927.4

p.P1237delFs

c.3711delC

Surrounding Variants

2 papers

NM_138927.4

p.S1238fs

c.3712_3713fs

1 paper

NM_138927.4

p.E1250K

c.3748G>A

1 paper

NM_138927.4

p.E1250*

c.3748G>T

1 paper

NM_138927.4

p.E1256G

c.3767A>G

1 paper

NM_138927.4

p.S1257F

c.3770C>T

1 paper

NM_138927.4

p.V1215E

c.3644T>A

2 papers

NM_138927.4

p.S1202L

c.3605C>T

6 papers

NM_138927.4

p.P1200fs

c.3598_3599fs

8 papers

NM_138927.4

p.V1199_P1200insFs

c.3597_3598dupGC

1 paper

NM_138927.4

p.V1199_P1200delFs

c.3597_3598delGC

11 papers

NM_138927.4

p.M1284_S1286delFs

c.3852_3856del5

1 paper

NM_138927.4

p.M1284V

c.3850A>G