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

3 papers

NM_001366028.2

p.N187D

c.559A>G

Surrounding Variants

1 paper

NM_001366028.2

p.Y185C

c.554A>G

3 papers

NM_001366028.2

p.L183I

c.547C>A

1 paper

NM_001366028.2

p.S191C

c.572C>G

1 paper

NM_001366028.2

p.I200V

c.598A>G

1 paper

NM_001366028.2

p.F201S

c.602T>C

1 paper

NM_001366028.2

p.F201_S202insFs

c.603_604insG

2 papers

NM_001366028.2

p.I206delFs

c.616delT

1 paper

NM_001366028.2

p.I207I

c.621T>A

1 paper

NM_001366028.2

p.M211T

c.632T>C

1 paper

NM_001366028.2

p.T220A

c.658A>G

1 paper

NM_001366028.2

p.T221A

c.661A>G

1 paper

NM_001366028.2

p.L227insFs

c.680dupT