Varaico: Literature-Extracted Genetic Variants

DNAAF5

115 papers

RefSeq Summary

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associ...

Pfam Domains

HEATaa 286–313UCSCHEAT repeat

HEAT_DAAF5aa 336–530UCSCDynein axonemal assembly factor 5, HEAT-repeat domain

HEATaa 744–774UCSCHEAT repeat

Gene Aliases

HGNC Name

dynein axonemal assembly factor 5

HGNC Previous Symbol

HEATR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017802.4

p.W316*

c.948G>A

Surrounding Variants

1 paper

NM_017802.4

p.W316*

c.947G>A

1 paper

NM_017802.4

p.Q315*

c.943C>T

1 paper

NM_017802.4

p.N320_E321delFs

c.960_961delTG

1 paper

NM_017802.4

p.D323E

c.969C>A

1 paper

NM_017802.4

p.D323E

c.969C>G

2 papers

NM_017802.4

p.W309*

c.927G>A

2 papers

NM_017802.4

p.W309*

c.926G>A

1 paper

NM_017802.4

p.A306V

c.917C>T

4 papers

NM_017802.4

p.R302Splc

c.906-4T>G

1 paper

NM_017802.4

p.T334P

c.1000A>C

1 paper

NM_017802.4

p.P335P

c.1005A>C

1 paper

NM_017802.4

p.H337P

c.1010A>C