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.R1837H

c.5510G>A

Surrounding Variants

1 paper

NM_138927.4

p.S1836L

c.5507C>T

1 paper

NM_138927.4

p.R1839H

c.5516G>A

1 paper

NM_138927.4

p.S1832F

c.5495C>T

8 papers

NM_138927.4

p.S1843Y

c.5528C>A

7 papers

NM_138927.4

p.R1850delFs

c.5549_5550delGA

3 papers

NM_138927.4

p.R1850fs

c.5548_5549fs

1 paper

NM_138927.4

p.D1819insFs

c.5455_5456dupGA

1 paper

NM_138927.4

p.E1815K

c.5443G>A

1 paper

NM_138927.4

p.R1809C

c.5425C>T

1 paper

NM_138927.4

p.K1807del1

c.5419_5420delAAG

1 paper

NM_138927.4

p.R1869H

c.5606G>A

1 paper

NM_138927.4

p.V1794_K1795insFs

c.5382_5383insC