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

1–12 of 51 variants

4 papers

NM_004860.4

p.R483Q

c.1448G>A

3 papers

NM_004860.4

p.K651E

c.1951A>G

2 papers

NM_004860.4

p.G7A

c.20G>C

2 papers

NM_004860.4

p.T451I

c.1352C>T

2 papers

NM_004860.4

p.P540fs

c.1618_1619fs

1 paper

NM_004860.4

p.G2D

c.5G>A

1 paper

NM_004860.4

p.G3S

c.7G>A

1 paper

NM_004860.4

p.D9delFs

c.25delC

1 paper

NM_004860.4

p.D9fs

c.25_26fs

1 paper

NM_004860.4

p.V10E

c.29T>A

1 paper

NM_004860.4

p.V16I

c.46G>A

1 paper

NM_004860.4

p.N22S

c.65A>G