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.H497P

c.1490A>C

Surrounding Variants

1 paper

NM_005087.4

p.H497H

c.1491T>C

1 paper

NM_005087.4

p.D492D

c.1476T>C

1 paper

NM_005087.4

p.D490D

c.1470C>T

1 paper

NM_005087.4

p.R505W

c.1513C>T

1 paper

NM_005087.4

p.R509*

c.1525C>T

1 paper

NM_005087.4

p.S474N

c.1421G>A

1 paper

NM_005087.4

p.M521L

c.1561A>C

1 paper

NM_005087.4

p.M521L

c.1561A>T

1 paper

NM_005087.4

p.M521K

c.1562T>A

1 paper

NM_005087.4

p.D471Y

c.1411G>T

1 paper

NM_005087.4

p.A527A

c.1581T>C

1 paper

NM_005087.4

p.E531E

c.1593A>G