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

4 papers

NM_006047.6

p.P844delFs

c.2532delA

Surrounding Variants

1 paper

NM_006047.6

p.G845fs

c.2533_2534fs

2 papers

NM_006047.6

p.P835ins2

c.2504_2505ins6

1 paper

NM_006047.6

p.P835P

c.2505T>C

1 paper

NM_006047.6

p.K859insFs

c.2577dupA

1 paper

NM_006047.6

p.V860fs

c.2578_2579fs

1 paper

NM_006047.6

p.G826G

c.2478G>C

1 paper

NM_006047.6

p.V867M

c.2599G>A

1 paper

NM_006047.6

p.G878C

c.2632G>T

3 papers

NM_006047.6

p.G793*

c.2377G>T

1 paper

NM_006047.6

p.A912G

c.2735C>G

1 paper

NM_006047.6

p.N918S

c.2753A>G

1 paper

NM_006047.6

p.P740L

c.2219C>T