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.T3589fs

c.10765_10766fs

Surrounding Variants

1 paper

NM_001367479.1

p.T3589delFs

c.10765delA

1 paper

NM_001367479.1

p.E3595V

c.10784A>T

1 paper

NM_001367479.1

p.M3577T

c.10730T>C

1 paper

NM_001367479.1

p.V3642A

c.10925T>C

1 paper

NM_001367479.1

p.P3673_D3683delFs

c.11018_11048del31

1 paper

NM_001367479.1

p.I3690_D3691del2

c.11068_11072del6

1 paper

NM_001367479.1

p.I3690T

c.11069T>C

1 paper

NM_001367479.1

p.A3726G

c.11177C>G

1 paper

NM_001367479.1

p.Q3761Q

c.11283G>A

1 paper

NM_001367479.1

p.L3764I

c.11290C>A

5 papers

NM_001367479.1

p.Q3556R

c.10667A>G

1 paper

NM_001367479.1

p.Q3508H

c.10524A>T