Varaico: Literature-Extracted Genetic Variants

DNAH12

3p14.3 (UCSC)OMIM GTEx

111 papers

Pfam Domains

DHC_N2aa 676–1110UCSCDynein heavy chain, N-terminal region 2

AAA_6aa 1238–1564UCSCHydrolytic ATP binding site of dynein motor region

Dynein_AAA_lidaa 1731–1866UCSCDynein heavy chain AAA lid domain

AAA_7aa 1873–2053UCSCP-loop containing dynein motor region

AAA_lid_1aa 2086–2183UCSCAAA+ lid domain

AAA_8aa 2246–2506UCSCP-loop containing dynein motor region D4

Gene Aliases

HGNC Name

dynein axonemal heavy chain 12

HGNC Previous Symbols

DNHD2; DNAH12L; DNAH7L

Papers

RefSeq ID

Protein change

DNA change

1–12 of 254 variants

4 papers

NM_001366028.2

p.G93fs

c.277_278fs

3 papers

NM_001366028.2

p.P165Q

c.494C>A

3 papers

NM_001366028.2

p.L183I

c.547C>A

3 papers

NM_001366028.2

p.N187D

c.559A>G

3 papers

NM_001366028.2

p.D1683A

c.5048A>C

2 papers

NM_001366028.2

p.M1insFs

c.2dupT

2 papers

NM_001366028.2

p.V32A

c.95T>C

2 papers

NM_001366028.2

p.K92insFs

c.276dupA

2 papers

NM_001366028.2

p.I206delFs

c.616delT

2 papers

NM_001366028.2

p.P1389L

c.4166C>T

2 papers

NM_001366028.2

p.D1572N

c.4714G>A

2 papers

NM_001366028.2

p.R1999*

c.5995C>T