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

3 papers

NM_001367479.1

p.I7insFs

c.21dupT

Surrounding Variants

1 paper

NM_001367479.1

p.T11T

c.33T>A

1 paper

NM_001367479.1

p.E2_T3insT

c.4_8ins3

1 paper

NM_001367479.1

p.M1insFs

c.2_3insT

2 papers

NM_001367479.1

p.E19*

c.55G>T

1 paper

NM_001367479.1

p.E20delFs

c.58_59delGA

1 paper

NM_001367479.1

p.L28delFs

c.83delT

1 paper

NM_001367479.1

p.L28fs

c.82_83fs

1 paper

NM_001367479.1

p.E32G

c.95A>G

1 paper

NM_001367479.1

p.Y35F

c.104A>T

2 papers

NM_001367479.1

p.T43S

c.127A>T

2 papers

NM_001367479.1

p.T43S

c.128C>G

1 paper

NM_001367479.1

p.A49E

c.146C>A