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

1–12 of 67 variants

4 papers

NM_006047.6

p.P844delFs

c.2532delA

3 papers

NM_006047.6

p.G793*

c.2377G>T

2 papers

NM_006047.6

p.R6H

c.17G>A

2 papers

NM_006047.6

p.M202V

c.604A>G

2 papers

NM_006047.6

p.R341*

c.1021C>T

2 papers

NM_006047.6

p.P835ins2

c.2504_2505ins6

1 paper

NM_006047.6

p.R6C

c.16C>T

1 paper

NM_006047.6

p.M17_D18delFs

c.50_54del5

1 paper

NM_006047.6

p.D50_R54del5

c.148_161del15

1 paper

NM_006047.6

p.M57K

c.170T>A

1 paper

NM_006047.6

p.G66W

c.196G>T

1 paper

NM_006047.6

p.E84A

c.251A>C