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

1–12 of 109 variants

6 papers

NM_005087.4

p.I304N

c.911T>A

3 papers

NM_005087.4

p.N124delFs

c.371delA

3 papers

NM_005087.4

p.L351P

c.1052T>C

2 papers

NM_005087.4

p.E39delFs

c.116delA

2 papers

NM_005087.4

p.A233T

c.697G>A

2 papers

NM_005087.4

p.H237D

c.709C>G

2 papers

NM_005087.4

p.N300D

c.898A>G

2 papers

NM_005087.4

p.L424delFs

c.1270delT

2 papers

NM_005087.4

p.L424fs

c.1270_1271fs

2 papers

NM_005087.4

p.D437E

c.1311C>A

2 papers

NM_005087.4

p.D437E

c.1311C>G

2 papers

NM_005087.4

p.H497P

c.1490A>C