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

2 papers

NM_001367479.1

p.R99G

c.295A>G

Surrounding Variants

1 paper

NM_001367479.1

p.E94_K95insFs

c.282_283ins4

1 paper

NM_001367479.1

p.P89T

c.265C>A

1 paper

NM_001367479.1

p.R115K

c.344G>A

1 paper

NM_001367479.1

p.I79Fs

c.236_237delinsAFs

1 paper

NM_001367479.1

p.Y119C

c.356A>G

1 paper

NM_001367479.1

p.R76*

c.226A>T

1 paper

NM_001367479.1

p.E123Splc

c.368-1G>A

2 papers

NM_001367479.1

p.R137*

c.409C>T

3 papers

NM_001367479.1

p.P147L

c.440C>T

1 paper

NM_001367479.1

p.T58_V59delFs

c.174_177del4

1 paper

NM_001367479.1

p.T58_V59del2

c.172_176del6

1 paper

NM_001367479.1

p.A49E

c.146C>A