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

13 papers

NM_138927.4

p.R1112*

c.3334C>T

Surrounding Variants

1 paper

NM_138927.4

p.M1093I

c.3279G>A

1 paper

NM_138927.4

p.M1093I

c.3279G>C

1 paper

NM_138927.4

p.M1093I

c.3279G>T

5 papers

NM_138927.4

p.Y1136*

c.3408C>A

5 papers

NM_138927.4

p.Y1136*

c.3408C>G

5 papers

NM_138927.4

p.R1081R

c.3243A>G

1 paper

NM_138927.4

p.S1073P

c.3217T>C

5 papers

NM_138927.4

p.R1072C

c.3214C>T

3 papers

NM_138927.4

p.S1068*

c.3203C>A

4 papers

NM_138927.4

p.S1068*

c.3203C>G

1 paper

NM_138927.4

p.P1158_P1159insGC

c.3472_3476ins6

2 papers

NM_138927.4

p.P1159delFs

c.3476delC