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

3 papers

NM_005087.4

p.L351P

c.1052T>C

Surrounding Variants

1 paper

NM_005087.4

p.E352K

c.1054G>A

1 paper

NM_005087.4

p.E352A

c.1055A>C

1 paper

NM_005087.4

p.Q348K

c.1042C>A

1 paper

NM_005087.4

p.N346S

c.1037A>G

1 paper

NM_005087.4

p.V338F

c.1012G>T

1 paper

NM_005087.4

p.M332K

c.995T>A

1 paper

NM_005087.4

p.R376G

c.1126C>G

1 paper

NM_005087.4

p.S382F

c.1145C>T

1 paper

NM_005087.4

p.R386K

c.1157G>A

1 paper

NM_005087.4

p.R388K

c.1163G>A

1 paper

NM_005087.4

p.R390C

c.1168C>T

1 paper

NM_005087.4

p.T396P

c.1186A>C