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.S379insFs

c.1135_1136insA

Surrounding Variants

1 paper

NM_138927.4

p.A378A

c.1134C>T

1 paper

NM_138927.4

p.A378T

c.1132G>A

1 paper

NM_138927.4

p.Q373R

c.1118A>G

1 paper

NM_138927.4

p.L372P

c.1115T>C

1 paper

NM_138927.4

p.P386R

c.1157C>G

1 paper

NM_138927.4

p.P386_P387insFs

c.1158_1159insGC

1 paper

NM_138927.4

p.P387L

c.1160C>T

1 paper

NM_138927.4

p.L370F

c.1110G>C

1 paper

NM_138927.4

p.L370F

c.1110G>T

1 paper

NM_138927.4

p.T367A

c.1099A>G

1 paper

NM_138927.4

p.K366E

c.1096A>G

1 paper

NM_138927.4

p.P392S

c.1174C>T