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.S138A

c.412T>G

Surrounding Variants

1 paper

NM_138927.4

p.S138T

c.412T>A

1 paper

NM_138927.4

p.E135K

c.403G>A

1 paper

NM_138927.4

p.E134D

c.402A>C

1 paper

NM_138927.4

p.E134D

c.402A>T

8 papers

NM_138927.4

p.Q132*

c.394C>T

1 paper

NM_138927.4

p.R131fs

c.391_392fs

1 paper

NM_138927.4

p.R131_Q132delFs

c.393_396del4

1 paper

NM_138927.4

p.Y129*

c.387T>A

1 paper

NM_138927.4

p.Y129*

c.387T>G

1 paper

NM_138927.4

p.Y129N

c.385T>A

1 paper

NM_138927.4

p.I148fs

c.442_443fs

2 papers

NM_138927.4

p.K128fs

c.382_383fs