Varaico: Literature-Extracted Genetic Variants

DMXL2

200 papers

RefSeq Summary

This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in...

Pfam Domains

WD40aa 160–198UCSCWD domain, G-beta repeat

Rav1p_Caa 1127–1424UCSCRAVE protein 1 C terminal

Rav1p_Caa 1443–1904UCSCRAVE protein 1 C terminal

WD40aa 2932–2970UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

Dmx like 2

HGNC Alias Symbols

RC3; KIAA0856; DFNA71

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001378457.1

p.V11V

c.33C>T

Surrounding Variants

2 papers

NM_001378457.1

p.T8S

c.23C>G

2 papers

NM_001378457.1

p.T8S

c.22A>T

1 paper

NM_001378457.1

p.H4Q

c.12T>G

3 papers

NM_001378457.1

p.M1insFs

c.3dupG

1 paper

NM_001378457.1

p.M1ins5

c.2_3ins15

1 paper

NM_001378457.1

p.T29M

c.86C>T