Varaico: Literature-Extracted Genetic Variants

RBFOX1

123 papers

RefSeq Summary

The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanki...

Pfam Domains

RRM_1aa 119–187UCSCRNA recognition motif

Fox-1_Caa 253–342UCSCCalcitonin gene-related peptide regulator C terminal

Gene Aliases

HGNC Name

RNA binding fox-1 homolog 1

HGNC Alias Symbols

A2BP1; FOX-1; HRNBP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018723.4

p.C3G

c.7T>G

Surrounding Variants

2 papers

NM_018723.4

p.E4insFs

c.11dupA

1 paper

NM_018723.4

p.M1insFs

c.3dupG

2 papers

NM_018723.4

p.M1insFs

c.2dupT

1 paper

NM_018723.4

p.M1V

c.1A>G

1 paper

NM_018723.4

p.R5K

c.14G>A

1 paper

NM_018723.4

p.Q7R

c.20A>G

1 paper

NM_018723.4

p.L8insFs

c.22dupC