Varaico: Literature-Extracted Genetic Variants

DNAH14

191 papers

RefSeq Summary

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH...

Pfam Domains

DHC_N2aa 989–1394UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1527–1861UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 2164–2277UCSCDynein heavy chain AAA lid domain

AAA_7aa 2314–2367UCSCP-loop containing dynein motor region

AAA_7aa 2416–2547UCSCP-loop containing dynein motor region

AAA_lid_1aa 2580–2674UCSCAAA+ lid domain

Gene Aliases

HGNC Name

dynein axonemal heavy chain 14

HGNC Previous Symbol

C1orf67

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001367479.1

p.A3221T

c.9661G>A

Surrounding Variants

1 paper

NM_001367479.1

p.K3214E

c.9640A>G

2 papers

NM_001367479.1

p.R3229*

c.9685C>T

1 paper

NM_001367479.1

p.G3212S

c.9634G>A

1 paper

NM_001367479.1

p.L3241_V3242Splc

c.9723+1G>A

1 paper

NM_001367479.1

p.N3203fs

c.9607_9608fs

2 papers

NM_001367479.1

p.W3197*

c.9590G>A

1 paper

NM_001367479.1

p.T3140M

c.9419C>T

1 paper

NM_001367479.1

p.I3097T

c.9290T>C

1 paper

NM_001367479.1

p.N3084D

c.9250A>G

1 paper

NM_001367479.1

p.L3263S

c.9788T>C

2 papers

NM_001367479.1

p.R3266Q

c.9797G>A

1 paper

NM_001367479.1

p.T3282I

c.9845C>T