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.Q853*

c.2557C>T

Surrounding Variants

1 paper

NM_001367479.1

p.S852F

c.2555C>T

1 paper

NM_001367479.1

p.N835_A836delFs

c.2504_2508del5

1 paper

NM_001367479.1

p.I832fs

c.2494_2495fs

1 paper

NM_001367479.1

p.I832delFs

c.2495delT

4 papers

NM_001367479.1

p.L828V

c.2482C>G

1 paper

NM_001367479.1

p.S885L

c.2654C>T

1 paper

NM_001367479.1

p.M887V

c.2659A>G

1 paper

NM_001367479.1

p.S813*

c.2438C>A

1 paper

NM_001367479.1

p.S813*

c.2438C>G

1 paper

NM_001367479.1

p.A931D

c.2792C>A

1 paper

NM_001367479.1

p.T937K

c.2810C>A

1 paper

NM_001367479.1

p.S951R

c.2851A>C