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

4 papers

NM_001367479.1

p.R2897C

c.8689C>T

Surrounding Variants

1 paper

NM_001367479.1

p.E2921K

c.8761G>A

1 paper

NM_001367479.1

p.F2930L

c.8788T>C

1 paper

NM_001367479.1

p.F2930L

c.8790C>A

1 paper

NM_001367479.1

p.F2930L

c.8790C>G

1 paper

NM_001367479.1

p.K2946_C2951delFs

c.8836_8852del17

1 paper

NM_001367479.1

p.A2948S

c.8842G>T

1 paper

NM_001367479.1

p.Y2980D

c.8938T>G

1 paper

NM_001367479.1

p.S2836L

c.8507C>T

1 paper

NM_001367479.1

p.R3004P

c.9011G>C

1 paper

NM_001367479.1

p.I3012V

c.9034A>G

1 paper

NM_001367479.1

p.Q3052*

c.9154C>T

1 paper

NM_001367479.1

p.L3060_D3064del5

c.9178_9191del15