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.V1388G

c.4163T>G

Surrounding Variants

1 paper

NM_138927.4

p.P1392P

c.4176G>A

7 papers

NM_138927.4

p.L1384_P1392del0

c.4151_4174del24

1 paper

NM_138927.4

p.S1378P

c.4132T>C

1 paper

NM_138927.4

p.P1400_D1401delFs

c.4198_4201del4

1 paper

NM_138927.4

p.P1400fs

c.4198_4199fs

1 paper

NM_138927.4

p.I1405V

c.4213A>G

1 paper

NM_138927.4

p.A1364T

c.4090G>A

1 paper

NM_138927.4

p.E1414delFs

c.4241_4242delAG

7 papers

NM_138927.4

p.P1352fs

c.4054_4055fs

10 papers

NM_138927.4

p.P1352delFs

c.4055delC

1 paper

NM_138927.4

p.A1340fs

c.4018_4019fs

4 papers

NM_138927.4

p.A1340delFs

c.4018delG