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

Selected Variant

1 paper

NM_001366028.2

p.E784D

c.2352A>T

Surrounding Variants

1 paper

NM_001366028.2

p.E784D

c.2352A>C

1 paper

NM_001366028.2

p.L792L

c.2376G>C

1 paper

NM_001366028.2

p.S817Y

c.2450C>A

1 paper

NM_001366028.2

p.G818G

c.2454A>T

1 paper

NM_001366028.2

p.T820T

c.2460A>T

1 paper

NM_001366028.2

p.N828K

c.2484C>G

1 paper

NM_001366028.2

p.N828K

c.2484C>A

1 paper

NM_001366028.2

p.Q835K

c.2503C>A

1 paper

NM_001366028.2

p.K851T

c.2552A>C

1 paper

NM_001366028.2

p.N854D

c.2560A>G

1 paper

NM_001366028.2

p.N854delFs

c.2561_2562delAT

1 paper

NM_001366028.2

p.I867V

c.2599A>G