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

2 papers

NM_018077.3

p.N561N

c.1683C>T

Surrounding Variants

1 paper

NM_018077.3

p.R558H

c.1673G>A

1 paper

NM_018077.3

p.L557I

c.1669C>A

1 paper

NM_018077.3

p.A545_E549del0

c.1634_1645del12

1 paper

NM_018077.3

p.Y542Y

c.1626C>T

1 paper

NM_018077.3

p.Q538E

c.1612C>G

1 paper

NM_018077.3

p.R526Q

c.1577G>A

1 paper

NM_018077.3

p.E576D

c.1728G>T

1 paper

NM_018077.3

p.E576D

c.1728G>C

1 paper

NM_018077.3

p.E614G

c.1841A>G

1 paper

NM_018077.3

p.P679A

c.2035C>G

1 paper

NM_018077.3

p.R518C

c.1552C>T

1 paper

NM_018077.3

p.R486*

c.1456C>T