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.A717fs

c.2149_2150fs

Surrounding Variants

1 paper

NM_138927.4

p.L716F

c.2148A>C

1 paper

NM_138927.4

p.L716F

c.2148A>T

1 paper

NM_138927.4

p.I715M

c.2145A>G

1 paper

NM_138927.4

p.I715_L716Fs

c.2145_2146delinsTCTGGGGFs

5 papers

NM_138927.4

p.T720delFs

c.2160delC

1 paper

NM_138927.4

p.M721fs

c.2161_2162fs

1 paper

NM_138927.4

p.P711delFs

c.2133delA

2 papers

NM_138927.4

p.I725M

c.2175A>G

1 paper

NM_138927.4

p.T730A

c.2188A>G

1 paper

NM_138927.4

p.A737G

c.2210C>G

1 paper

NM_138927.4

p.T694A

c.2080A>G

1 paper

NM_138927.4

p.Q689H

c.2067G>C