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

5 papers

NM_001367479.1

p.M1252K

c.3755T>A

Surrounding Variants

1 paper

NM_001367479.1

p.I1255L

c.3763A>C

1 paper

NM_001367479.1

p.I1255L

c.3763A>T

1 paper

NM_001367479.1

p.Q1243H

c.3729A>T

2 papers

NM_001367479.1

p.E1272A

c.3815A>C

1 paper

NM_001367479.1

p.I1230_R1231delFs

c.3690_3691delAC

1 paper

NM_001367479.1

p.L1221V

c.3661C>G

1 paper

NM_001367479.1

p.L1221F

c.3661C>T

1 paper

NM_001367479.1

p.L1219H

c.3656T>A

1 paper

NM_001367479.1

p.M1212R

c.3635T>G

1 paper

NM_001367479.1

p.W1211C

c.3633G>T

1 paper

NM_001367479.1

p.L1208delFs

c.3622delC

1 paper

NM_001367479.1

p.Q1199E

c.3595C>G