Varaico: Literature-Extracted Genetic Variants

DMXL1

172 papers

RefSeq Summary

The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissu...

Pfam Domains

WD40aa 159–197UCSCWD domain, G-beta repeat

Rav1p_Caa 1101–1406UCSCRAVE protein 1 C terminal

Rav1p_Caa 1416–1877UCSCRAVE protein 1 C terminal

WD40aa 2918–2956UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

Dmx like 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 229 variants

5 papers

NM_001290321.3

p.V648I

c.1942G>A

2 papers

NM_001290321.3

p.K215I

c.644A>T

2 papers

NM_001290321.3

p.S1039C

c.3115A>T

2 papers

NM_001290321.3

p.G1150S

c.3448G>A

2 papers

NM_001290321.3

p.V1250I

c.3748G>A

2 papers

NM_001290321.3

p.R1369C

c.4105C>T

2 papers

NM_001290321.3

p.C1419delFs

c.4256delG

2 papers

NM_001290321.3

p.D1597N

c.4789G>A

2 papers

NM_001290321.3

p.R1746C

c.5236C>T

2 papers

NM_001290321.3

p.A2358T

c.7072G>A

2 papers

NM_001290321.3

p.D2468_V2469del1

c.7403_7405delATG

1 paper

NM_001290321.3

p.L7L

c.21G>A