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

2 papers

NM_138927.4

p.G440fs

c.1318_1319fs

Surrounding Variants

2 papers

NM_138927.4

p.G440insFs

c.1319_1320insA

1 paper

NM_138927.4

p.P441_T444del0

c.1321_1332del12

1 paper

NM_138927.4

p.T444_L456del13

c.1330_1367del39

3 papers

NM_138927.4

p.T444delFs

c.1332delA

1 paper

NM_138927.4

p.V435M

c.1303G>A

1 paper

NM_138927.4

p.Q448*

c.1342C>T

1 paper

NM_138927.4

p.P431delFs

c.1293delT

1 paper

NM_138927.4

p.L456P

c.1367T>C

2 papers

NM_138927.4

p.P423S

c.1267C>T

2 papers

NM_138927.4

p.T422A

c.1264A>G

1 paper

NM_138927.4

p.P459Q

c.1376C>A

1 paper

NM_138927.4

p.P414A

c.1240C>G