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

1 paper

NM_005087.4

p.N124fs

c.370_371fs

Surrounding Variants

3 papers

NM_005087.4

p.N124delFs

c.371delA

1 paper

NM_005087.4

p.V121fs

c.361_362fs

1 paper

NM_005087.4

p.F127S

c.380T>C

1 paper

NM_005087.4

p.N116D

c.346A>G

1 paper

NM_005087.4

p.E139D

c.417G>C

1 paper

NM_005087.4

p.E139D

c.417G>T

1 paper

NM_005087.4

p.Y103N

c.307T>A

1 paper

NM_005087.4

p.A101T

c.301G>A

1 paper

NM_005087.4

p.A146T

c.436G>A

1 paper

NM_005087.4

p.A146A

c.438A>G

1 paper

NM_005087.4

p.K148E

c.442A>G

1 paper

NM_005087.4

p.A156T

c.466G>A