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.A614T

c.1840G>A

Surrounding Variants

4 papers

NM_138927.4

p.A615_P624delFs

c.1845_1870del26

3 papers

NM_138927.4

p.G616fs

c.1846_1847fs

1 paper

NM_138927.4

p.L620F

c.1858C>T

1 paper

NM_138927.4

p.T627fs

c.1879_1880fs

10 papers

NM_138927.4

p.T627_G628delFs

c.1881_1882delAG

1 paper

NM_138927.4

p.L600F

c.1798C>T

1 paper

NM_138927.4

p.P599S

c.1795C>T

10 papers

NM_138927.4

p.V629fs

c.1885_1886fs

2 papers

NM_138927.4

p.L594L

c.1782A>G

2 papers

NM_138927.4

p.Q635_P636delFs

c.1903_1907del5

1 paper

NM_138927.4

p.A590T

c.1768G>A

1 paper

NM_138927.4

p.V589L

c.1765G>C