Varaico: Literature-Extracted Genetic Variants

RBM12

64 papers

RefSeq Summary

This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. A...

Pfam Domains

RRM_11aa 5–90UCSCRRM domain

RRM_11aa 306–392UCSCRRM domain

RRM_11aa 432–517UCSCRRM domain

RRM_11aa 547–631UCSCRRM domain

RRM_1aa 858–928UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 12

HGNC Alias Symbols

HRIHFB2091; KIAA0765; SWAN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006047.6

p.P279S

c.835C>T

Surrounding Variants

1 paper

NM_006047.6

p.N270Y

c.808A>T

1 paper

NM_006047.6

p.S293G

c.877A>G

1 paper

NM_006047.6

p.S293T

c.878G>C

1 paper

NM_006047.6

p.A257S

c.769G>T

1 paper

NM_006047.6

p.V252M

c.754G>A

1 paper

NM_006047.6

p.G310R

c.928G>C

1 paper

NM_006047.6

p.G310R

c.928G>A

1 paper

NM_006047.6

p.S242L

c.725C>T

1 paper

NM_006047.6

p.P221_P224del0

c.663_671del9

2 papers

NM_006047.6

p.R341*

c.1021C>T

1 paper

NM_006047.6

p.P213L

c.638C>T

1 paper

NM_006047.6

p.G346R

c.1036G>C