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.Y1020Y

c.3060T>C

Surrounding Variants

1 paper

NM_138927.4

p.M1024V

c.3070A>G

9 papers

NM_138927.4

p.M1025insFs

c.3073dupA

6 papers

NM_138927.4

p.M1025fs

c.3073_3074fs

1 paper

NM_138927.4

p.S1043_S1051del0

c.3129_3152del24

1 paper

NM_138927.4

p.A1005S

c.3013G>T

1 paper

NM_138927.4

p.E1038G

c.3113A>G

1 paper

NM_138927.4

p.M1041fs

c.3121_3122fs

1 paper

NM_138927.4

p.M1041delFs

c.3123delG

4 papers

NM_138927.4

p.Y1045_M1053delFs

c.3135_3157del23

1 paper

NM_138927.4

p.S1051_S1060del0

c.3153_3179del27

1 paper

NM_138927.4

p.S995C

c.2984C>G

1 paper

NM_138927.4

p.E1046fs

c.3136_3137fs