Varaico: Literature-Extracted Genetic Variants

FXR1

109 papers

RefSeq Summary

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate w...

Pfam Domains

Tudor_FRX1aa 4–52UCSCFragile X messenger ribonucleoprotein 1, Tudor domain

KH_9aa 38–122UCSCFMRP KH0 domain

Agenetaa 62–117UCSCAgenet domain

KH_1aa 135–195UCSCKH domain

KH_1aa 198–267UCSCKH domain

FXMRP1_C_coreaa 269–296UCSCFragile X-related 1 protein core C terminal

Gene Aliases

HGNC Name

FMR1 autosomal homolog 1

HGNC Previous Name

fragile X mental retardation, autosomal homolog 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005087.4

p.E39delFs

c.116delA

Surrounding Variants

1 paper

NM_005087.4

p.P52P

c.156A>T

1 paper

NM_005087.4

p.D54D

c.162T>C

1 paper

NM_005087.4

p.K57Q

c.169A>C

1 paper

NM_005087.4

p.E66K

c.196G>A

1 paper

NM_005087.4

p.E66A

c.197A>C

1 paper

NM_005087.4

p.N34I

c.101A>T

1 paper

NM_005087.4

p.H24R

c.71A>G

1 paper

NM_005087.4

p.K21R

c.62A>G

1 paper

NM_005087.4

p.K17_G18Splc

c.52-7C>T

1 paper

NM_005087.4

p.K17_G18Splc

c.52-980G>A