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.P412L

c.1235C>T

Surrounding Variants

1 paper

NM_138927.4

p.P414A

c.1240C>G

2 papers

NM_138927.4

p.T422A

c.1264A>G

2 papers

NM_138927.4

p.P423S

c.1267C>T

1 paper

NM_138927.4

p.P397A

c.1189C>G

1 paper

NM_138927.4

p.G396_P398insFs

c.1186_1192dup7

2 papers

NM_138927.4

p.Q395*

c.1183C>T

1 paper

NM_138927.4

p.L394_Q395insFs

c.1182_1183insGC

1 paper

NM_138927.4

p.E393G

c.1178A>G

1 paper

NM_138927.4

p.P431delFs

c.1293delT

1 paper

NM_138927.4

p.E393_G396del4

c.1177_1187del12

1 paper

NM_138927.4

p.P392S

c.1174C>T

1 paper

NM_138927.4

p.V435M

c.1303G>A