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.I208V

c.622A>G

Surrounding Variants

1 paper

NM_006047.6

p.P209L

c.626C>T

1 paper

NM_006047.6

p.P213L

c.638C>T

2 papers

NM_006047.6

p.M202V

c.604A>G

1 paper

NM_006047.6

p.A195A

c.585G>A

1 paper

NM_006047.6

p.P194L

c.581C>T

1 paper

NM_006047.6

p.P221_P224del0

c.663_671del9

1 paper

NM_006047.6

p.P186L

c.557C>T

1 paper

NM_006047.6

p.P186R

c.557C>G

1 paper

NM_006047.6

p.S242L

c.725C>T

1 paper

NM_006047.6

p.T170T

c.510G>A

1 paper

NM_006047.6

p.T170M

c.509C>T

1 paper

NM_006047.6

p.T170A

c.508A>G