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.S951R

c.2853T>G

Surrounding Variants

1 paper

NM_001367479.1

p.S951R

c.2853T>A

1 paper

NM_001367479.1

p.S951R

c.2851A>C

1 paper

NM_001367479.1

p.T937K

c.2810C>A

1 paper

NM_001367479.1

p.F966C

c.2897T>G

1 paper

NM_001367479.1

p.A931D

c.2792C>A

1 paper

NM_001367479.1

p.Q983*

c.2947C>T

1 paper

NM_001367479.1

p.K1001K

c.3003A>G

1 paper

NM_001367479.1

p.E1007_E1008del2

c.3019_3023del6

4 papers

NM_001367479.1

p.K1010R

c.3029A>G

1 paper

NM_001367479.1

p.K1010_R1011delins

c.3029_3032delinsGGCA

4 papers

NM_001367479.1

p.R1011Q

c.3032G>A

1 paper

NM_001367479.1

p.S1020_Q1022delFs

c.3060_3064del5