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.E84A

c.251A>C

Surrounding Variants

1 paper

NM_006047.6

p.R87C

c.259C>T

1 paper

NM_006047.6

p.G66W

c.196G>T

1 paper

NM_006047.6

p.P109A

c.325C>G

1 paper

NM_006047.6

p.M57K

c.170T>A

1 paper

NM_006047.6

p.D50_R54del5

c.148_161del15

1 paper

NM_006047.6

p.V134G

c.401T>G

1 paper

NM_006047.6

p.T135S

c.403A>T

1 paper

NM_006047.6

p.T135S

c.404C>G

1 paper

NM_006047.6

p.H141Y

c.421C>T

1 paper

NM_006047.6

p.M17_D18delFs

c.50_54del5

1 paper

NM_006047.6

p.G156A

c.467G>C

2 papers

NM_006047.6

p.R6H

c.17G>A