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.D3393E

c.10179C>A

Surrounding Variants

1 paper

NM_001367479.1

p.D3393E

c.10179C>G

1 paper

NM_001367479.1

p.S3418G

c.10252A>G

2 papers

NM_001367479.1

p.R3363*

c.10087C>T

1 paper

NM_001367479.1

p.G3446G

c.10338C>T

1 paper

NM_001367479.1

p.N3474D

c.10420A>G

1 paper

NM_001367479.1

p.R3478S

c.10434G>C

1 paper

NM_001367479.1

p.R3478S

c.10434G>T

1 paper

NM_001367479.1

p.R3478S

c.10434G>T

1 paper

NM_001367479.1

p.F3503_T3504del2

c.10507_10511del6

1 paper

NM_001367479.1

p.Q3508H

c.10524A>T

5 papers

NM_001367479.1

p.Q3556R

c.10667A>G

1 paper

NM_001367479.1

p.T3282I

c.9845C>T