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.S1670F

c.5009C>T

Surrounding Variants

7 papers

NM_138927.4

p.D1667_N1671del0

c.4999_5013del15

2 papers

NM_138927.4

p.I1664T

c.4991T>C

1 paper

NM_138927.4

p.K1677fs

c.5029_5030fs

7 papers

NM_138927.4

p.K1677_D1678insFs

c.5031_5032insAA

2 papers

NM_138927.4

p.D1678insFs

c.5032_5033insAA

1 paper

NM_138927.4

p.D1678fs

c.5032_5033fs

4 papers

NM_138927.4

p.D1678fs

c.5032_5033fs

1 paper

NM_138927.4

p.D1654G

c.4961A>G

1 paper

NM_138927.4

p.E1687K

c.5059G>A

1 paper

NM_138927.4

p.G1649R

c.4945G>C

2 papers

NM_138927.4

p.D1640fs

c.4918_4919fs

6 papers

NM_138927.4

p.D1640_M1641delFs

c.4919_4923del5