Varaico: Literature-Extracted Genetic Variants

RBM28

84 papers

RefSeq Summary

The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small n...

Pfam Domains

RRM_1aa 6–74UCSCRNA recognition motif

RRM_1aa 116–185UCSCRNA recognition motif

RRM_1aa 337–411UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 28

HGNC Alias Symbols

FLJ10377; NOP4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018077.3

p.D249G

c.746A>G

Surrounding Variants

1 paper

NM_018077.3

p.E254D

c.762A>T

1 paper

NM_018077.3

p.E254D

c.762A>C

1 paper

NM_018077.3

p.K260R

c.779A>G

1 paper

NM_018077.3

p.E230K

c.688G>A

1 paper

NM_018077.3

p.R270Splc

c.809+2T>C

1 paper

NM_018077.3

p.E207V

c.620A>T

1 paper

NM_018077.3

p.P277S

c.829C>T

1 paper

NM_018077.3

p.S295I

c.884G>T

1 paper

NM_018077.3

p.I296T

c.887T>C

1 paper

NM_018077.3

p.E300G

c.899A>G

1 paper

NM_018077.3

p.A316S

c.946G>T

1 paper

NM_018077.3

p.A316Splc

c.946+5G>C