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.T66T

c.198C>G

Surrounding Variants

1 paper

NM_018077.3

p.Q59fs

c.175_176fs

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

1 paper

NM_018077.3

p.K112T

c.335A>C

1 paper

NM_018077.3

p.K113N

c.339A>C

1 paper

NM_018077.3

p.A114G

c.341C>G

1 paper

NM_018077.3

p.M153delFs

c.457delT

1 paper

NM_018077.3

p.M153fs

c.457_458fs

1 paper

NM_018077.3

p.F156S

c.467T>C

1 paper

NM_018077.3

p.Q160_F161del1

c.480_482delAAC