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.L119M

c.355C>A

Surrounding Variants

1 paper

NM_004860.4

p.R123R

c.367C>A

1 paper

NM_004860.4

p.R123L

c.368G>T

1 paper

NM_004860.4

p.V125insFs

c.373dupG

1 paper

NM_004860.4

p.G134V

c.401G>T

1 paper

NM_004860.4

p.V156I

c.466G>A

1 paper

NM_004860.4

p.N172S

c.515A>G

1 paper

NM_004860.4

p.E68K

c.202G>A

1 paper

NM_004860.4

p.R200G

c.598C>G

1 paper

NM_004860.4

p.S210C

c.629C>G

1 paper

NM_004860.4

p.L265L

c.795G>A

1 paper

NM_004860.4

p.I314V

c.940A>G

1 paper

NM_004860.4

p.I314N

c.941T>A