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.M519V

c.1555A>G

Surrounding Variants

1 paper

NM_138927.4

p.G518A

c.1553G>C

1 paper

NM_138927.4

p.L513F

c.1539G>C

1 paper

NM_138927.4

p.L513F

c.1539G>T

1 paper

NM_138927.4

p.T534A

c.1600A>G

2 papers

NM_138927.4

p.A496delFs

c.1487delC

1 paper

NM_138927.4

p.T543A

c.1627A>G

1 paper

NM_138927.4

p.E547G

c.1640A>G

3 papers

NM_138927.4

p.T555M

c.1664C>T

4 papers

NM_138927.4

p.L482fs

c.1444_1445fs

7 papers

NM_138927.4

p.L482delFs

c.1444delC

3 papers

NM_138927.4

p.A557V

c.1670C>T

1 paper

NM_138927.4

p.P561S

c.1681C>T