Varaico: Literature-Extracted Genetic Variants

RBM39

77 papers

RefSeq Summary

This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in bot...

Pfam Domains

RRM_1aa 155–223UCSCRNA recognition motif

RRM_1aa 252–322UCSCRNA recognition motif

RBM39linkeraa 341–442UCSClinker between RRM2 and RRM3 domains in RBM39 protein

Gene Aliases

HGNC Name

RNA binding motif protein 39

HGNC Previous Symbol

RNPC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_184234.3

p.E271G

c.812A>G

Surrounding Variants

2 papers

NM_184234.3

p.E271Q

c.811G>C

1 paper

NM_184234.3

p.P272S

c.814C>T

7 papers

NM_184234.3

p.G268V

c.803G>T

1 paper

NM_184234.3

p.G268E

c.803G>A

1 paper

NM_184234.3

p.G268W

c.802G>T

2 papers

NM_184234.3

p.G268R

c.802G>C

2 papers

NM_184234.3

p.G268R

c.802G>A

2 papers

NM_184234.3

p.M265L

c.793A>T

2 papers

NM_184234.3

p.M265L

c.793A>C

1 paper

NM_184234.3

p.D264H

c.790G>C

1 paper

NM_184234.3

p.I261T

c.782T>C

1 paper

NM_184234.3

p.A235V

c.704C>T