Varaico: Literature-Extracted Genetic Variants

RBFOX2

46 papers

RefSeq Summary

This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous...

Pfam Domains

RRM_1aa 123–191UCSCRNA recognition motif

RRM_1aa 184–252UCSCRNA recognition motif

Fox-1_Caa 265–362UCSCCalcitonin gene-related peptide regulator C terminal

Fox-1_Caa 322–419UCSCCalcitonin gene-related peptide regulator C terminal

Gene Aliases

HGNC Name

RNA binding fox-1 homolog 2

HGNC Previous Symbol

RBM9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001349999.2

p.P7S

c.19C>T

Surrounding Variants

1 paper

NM_001349999.2

p.H8insFs

c.22dupC

6 papers

NM_001349999.2

p.H8Q

c.24T>G

6 papers

NM_001349999.2

p.H8Q

c.24T>A

1 paper

NM_001349999.2

p.A2A

c.6G>A

1 paper

NM_001349999.2

p.M1V

c.1A>G

1 paper

NM_001349999.2

p.A18T

c.52G>A

1 paper

NM_001349999.2

p.A19T

c.55G>A

1 paper

NM_001349999.2

p.A35A

c.105G>C

1 paper

NM_001349999.2

p.A35A

c.105G>A

1 paper

NM_001349999.2

p.G43D

c.128G>A

1 paper

NM_001349999.2

p.E52K

c.154G>A

1 paper

NM_001349999.2

p.D56Y

c.166G>T