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.K608Q

c.1822A>C

Surrounding Variants

1 paper

NM_006047.6

p.V616I

c.1846G>A

1 paper

NM_006047.6

p.Q634delFs

c.1900delG

1 paper

NM_006047.6

p.A655V

c.1964C>T

1 paper

NM_006047.6

p.E703K

c.2107G>A

1 paper

NM_006047.6

p.H503N

c.1507C>A

1 paper

NM_006047.6

p.N716D

c.2146A>G

1 paper

NM_006047.6

p.P740L

c.2219C>T

1 paper

NM_006047.6

p.F450insFs

c.1350dupT

1 paper

NM_006047.6

p.I447L

c.1339A>C

3 papers

NM_006047.6

p.G793*

c.2377G>T

1 paper

NM_006047.6

p.S422*

c.1265C>G

1 paper

NM_006047.6

p.S422*

c.1265C>A