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

1–12 of 311 variants

7 papers

NM_001367479.1

p.H2804Y

c.8410C>T

5 papers

NM_001367479.1

p.M1252K

c.3755T>A

5 papers

NM_001367479.1

p.Q3556R

c.10667A>G

4 papers

NM_001367479.1

p.S623delFs

c.1867delT

4 papers

NM_001367479.1

p.L828V

c.2482C>G

4 papers

NM_001367479.1

p.K1010R

c.3029A>G

4 papers

NM_001367479.1

p.R1011Q

c.3032G>A

4 papers

NM_001367479.1

p.R2897C

c.8689C>T

4 papers

NM_001367479.1

p.I4096T

c.12287T>C

3 papers

NM_001367479.1

p.I7insFs

c.21dupT

3 papers

NM_001367479.1

p.P147L

c.440C>T

3 papers

NM_001367479.1

p.P1095L

c.3284C>T