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.N180S

c.539A>G

Surrounding Variants

1 paper

NM_138927.4

p.P176S

c.526C>T

1 paper

NM_138927.4

p.R172G

c.514A>G

1 paper

NM_138927.4

p.R172*

c.514A>T

1 paper

NM_138927.4

p.P190fs

c.568_569fs

1 paper

NM_138927.4

p.S193L

c.578C>T

1 paper

NM_138927.4

p.M194V

c.580A>G

1 paper

NM_138927.4

p.D153A

c.458A>C

2 papers

NM_138927.4

p.D153fs

c.457_458fs

3 papers

NM_138927.4

p.D153delFs

c.457delG

1 paper

NM_138927.4

p.I148fs

c.442_443fs

1 paper

NM_138927.4

p.I148_S152delFs

c.444_456del13

1 paper

NM_138927.4

p.L214insFs

c.640_641insT