Varaico: Literature-Extracted Genetic Variants

FXR2

75 papers

RefSeq Summary

The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large r...

Pfam Domains

Tudor_FRX1aa 14–62UCSCFragile X messenger ribonucleoprotein 1, Tudor domain

Agenetaa 72–127UCSCAgenet domain

KH_9aa 133–217UCSCFMRP KH0 domain

KH_1aa 230–291UCSCKH domain

KH_1aa 293–363UCSCKH domain

FXMRP1_C_coreaa 364–491UCSCFragile X-related 1 protein core C terminal

Gene Aliases

HGNC Name

FMR1 autosomal homolog 2

HGNC Previous Symbol

FMR1L2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004860.4

p.K651E

c.1951A>G

Surrounding Variants

1 paper

NM_004860.4

p.L665F

c.1995G>T

1 paper

NM_004860.4

p.L665F

c.1995G>C

1 paper

NM_004860.4

p.K632E

c.1894A>G

1 paper

NM_004860.4

p.R630C

c.1888C>T

1 paper

NM_004860.4

p.S622T

c.1865G>C

1 paper

NM_004860.4

p.S616S

c.1848A>C

1 paper

NM_004860.4

p.G604E

c.1811G>A

1 paper

NM_004860.4

p.R587C

c.1759C>T

1 paper

NM_004860.4

p.D567insFs

c.1699dupG

1 paper

NM_004860.4

p.R549C

c.1645C>T

1 paper

NM_004860.4

p.A541fs

c.1621_1622fs

1 paper

NM_004860.4

p.P538insFs

c.1612dupC