Varaico: Literature-Extracted Genetic Variants

FMR1

711 papers

RefSeq Summary

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in ...

Pfam Domains

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

Agenetaa 62–117UCSCAgenet domain

KH_9aa 123–207UCSCFMRP KH0 domain

KH_1aa 220–280UCSCKH domain

KH_1aa 283–333UCSCKH domain

FXMRP1_C_coreaa 420–547UCSCFragile X-related 1 protein core C terminal

Gene Aliases

HGNC Name

fragile X messenger ribonucleoprotein 1

HGNC Previous Symbol

POF1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

176 papers

NM_002024.6

p.I304N

c.911T>A

Surrounding Variants

1 paper

NM_002024.6

p.Q305*

c.913C>T

1 paper

NM_002024.6

p.L303L

c.907C>T

1 paper

NM_002024.6

p.Q305Q

c.915G>A

1 paper

NM_002024.6

p.E306K

c.916G>A

1 paper

NM_002024.6

p.I307F

c.919A>T

4 papers

NM_002024.6

p.I307N

c.920T>A

1 paper

NM_002024.6

p.I307I

c.921T>C

1 paper

NM_002024.6

p.N300D

c.898A>G

1 paper

NM_002024.6

p.K299K

c.897A>G

1 paper

NM_002024.6

p.D309N

c.925G>A

1 paper

NM_002024.6

p.K299T

c.896A>C

1 paper

NM_002024.6

p.K310_S311insFs

c.930_931insG