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.R2043Q

c.6128G>A

Surrounding Variants

3 papers

NM_138927.4

p.R2043*

c.6127C>T

1 paper

NM_138927.4

p.E2042D

c.6126A>C

1 paper

NM_138927.4

p.E2042D

c.6126A>T

8 papers

NM_138927.4

p.S2029delFs

c.6087delC

5 papers

NM_138927.4

p.S2029fs

c.6085_6086fs

1 paper

NM_138927.4

p.R2008*

c.6022C>T

4 papers

NM_138927.4

p.V2004fs

c.6010_6011fs

4 papers

NM_138927.4

p.V2004delFs

c.6010delG

4 papers

NM_138927.4

p.R2002fs

c.6004_6005fs

1 paper

NM_138927.4

p.S2001S

c.6003A>G

7 papers

NM_138927.4

p.S2001insFs

c.6002_6003insCC

1 paper

NM_138927.4

p.R1991R

c.5973G>C