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.A89T

c.265G>A

Surrounding Variants

1 paper

NM_018723.4

p.Q83*

c.247C>T

1 paper

NM_018723.4

p.T80M

c.239C>T

1 paper

NM_018723.4

p.T80S

c.238A>T

1 paper

NM_018723.4

p.P77T

c.229C>A

1 paper

NM_018723.4

p.A69T

c.205G>A

3 papers

NM_018723.4

p.P68S

c.202C>T

1 paper

NM_018723.4

p.T62I

c.185C>T

1 paper

NM_018723.4

p.V58G

c.173T>G

1 paper

NM_018723.4

p.A49A

c.147G>A

1 paper

NM_018723.4

p.H47D

c.139C>G

1 paper

NM_018723.4

p.Y41D

c.121T>G

1 paper

NM_018723.4

p.P38H

c.113C>A