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.V589L

c.1765G>C

Surrounding Variants

1 paper

NM_138927.4

p.V589L

c.1765G>T

1 paper

NM_138927.4

p.P588S

c.1762C>T

1 paper

NM_138927.4

p.A590T

c.1768G>A

2 papers

NM_138927.4

p.L594L

c.1782A>G

4 papers

NM_138927.4

p.R580G

c.1738A>G

1 paper

NM_138927.4

p.R580_G592del0

c.1739_1774del36

3 papers

NM_138927.4

p.T579S

c.1736C>G

3 papers

NM_138927.4

p.T579S

c.1735A>T

1 paper

NM_138927.4

p.P599S

c.1795C>T

1 paper

NM_138927.4

p.L600F

c.1798C>T

1 paper

NM_138927.4

p.P573S

c.1717C>T

4 papers

NM_138927.4

p.A615_P624delFs

c.1845_1870del26