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.I4251T

c.12752T>C

Surrounding Variants

1 paper

NM_001367479.1

p.R4258Q

c.12773G>A

1 paper

NM_001367479.1

p.R4313Q

c.12938G>A

1 paper

NM_001367479.1

p.K4316delFs

c.12946_12947delAA

1 paper

NM_001367479.1

p.W4213*

c.12639G>A

1 paper

NM_001367479.1

p.W4213*

c.12638G>A

1 paper

NM_001367479.1

p.S4211N

c.12632G>A

1 paper

NM_001367479.1

p.I4173V

c.12517A>G

2 papers

NM_001367479.1

p.G4172_I4173insAT

c.12514_12518ins6

1 paper

NM_001367479.1

p.D4171G

c.12512A>G

1 paper

NM_001367479.1

p.L4153P

c.12458T>C

1 paper

NM_001367479.1

p.W4372insFs

c.13115_13116insA

1 paper

NM_001367479.1

p.S4413I

c.13238G>T