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

1 paper

NM_004860.4

p.S500A

c.1498T>G

Surrounding Variants

1 paper

NM_004860.4

p.S505L

c.1514C>T

1 paper

NM_004860.4

p.G487D

c.1460G>A

4 papers

NM_004860.4

p.R483Q

c.1448G>A

1 paper

NM_004860.4

p.D515V

c.1544A>T

2 papers

NM_004860.4

p.T451I

c.1352C>T

1 paper

NM_004860.4

p.E537K

c.1609G>A

1 paper

NM_004860.4

p.P538fs

c.1612_1613fs

1 paper

NM_004860.4

p.P540fs

c.1618_1619fs

1 paper

NM_004860.4

p.P538insFs

c.1612dupC

2 papers

NM_004860.4

p.P540fs

c.1618_1619fs

1 paper

NM_004860.4

p.P540delFs

c.1619delG

1 paper

NM_004860.4

p.A541fs

c.1621_1622fs