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

5 papers

NM_138927.4

p.L1593delFs

c.4777_4778delCT

Surrounding Variants

4 papers

NM_138927.4

p.T1592_L1593delFs

c.4776_4779del4

1 paper

NM_138927.4

p.L1593fs

c.4777_4778fs

1 paper

NM_138927.4

p.S1594fs

c.4780_4781fs

1 paper

NM_138927.4

p.S1595P

c.4783T>C

1 paper

NM_138927.4

p.A1600G

c.4799C>G

5 papers

NM_138927.4

p.R1575C

c.4723C>T

1 paper

NM_138927.4

p.G1611V

c.4832G>T

1 paper

NM_138927.4

p.T1616K

c.4847C>A

4 papers

NM_138927.4

p.E1560fs

c.4678_4679fs

4 papers

NM_138927.4

p.E1560delFs

c.4678delG

1 paper

NM_138927.4

p.T1555fs

c.4663_4664fs

5 papers

NM_138927.4

p.T1555delFs

c.4663delA