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.E38E

c.114A>G

Surrounding Variants

1 paper

NM_018077.3

p.K39R

c.116A>G

1 paper

NM_018077.3

p.Q26*

c.76C>T

1 paper

NM_018077.3

p.S25G

c.73A>G

1 paper

NM_018077.3

p.G9D

c.26G>A

1 paper

NM_018077.3

p.F7S

c.20T>C

1 paper

NM_018077.3

p.M1delins

c.2delinsA

1 paper

NM_018077.3

p.Q59fs

c.175_176fs

1 paper

NM_018077.3

p.T66T

c.198C>G

1 paper

NM_018077.3

p.V77F

c.229G>T

1 paper

NM_018077.3

p.E88V

c.263A>T

1 paper

NM_018077.3

p.E93*

c.277G>T

1 paper

NM_018077.3

p.P102P

c.306G>A