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

4 papers

NM_138927.4

p.S1766delFs

c.5297delC

Surrounding Variants

2 papers

NM_138927.4

p.S1766fs

c.5296_5297fs

1 paper

NM_138927.4

p.A1767_A1768delFs

c.5301_5302delTG

1 paper

NM_138927.4

p.A1768fs

c.5302_5303fs

1 paper

NM_138927.4

p.R1763H

c.5288G>A

2 papers

NM_138927.4

p.G1762fs

c.5284_5285fs

2 papers

NM_138927.4

p.G1762delFs

c.5285delG

3 papers

NM_138927.4

p.R1778_A1779delFs

c.5334_5335delAG

1 paper

NM_138927.4

p.G1754E

c.5261G>A

3 papers

NM_138927.4

p.R1778fs

c.5332_5333fs

1 paper

NM_138927.4

p.S1782F

c.5345C>T

1 paper

NM_138927.4

p.L1745I

c.5233C>A

1 paper

NM_138927.4

p.R1744fs

c.5230_5231fs