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.N54I

c.161A>T

Surrounding Variants

1 paper

NM_001366028.2

p.N54K

c.162T>G

1 paper

NM_001366028.2

p.N54K

c.162T>A

1 paper

NM_001366028.2

p.Q55R

c.164A>G

1 paper

NM_001366028.2

p.E48_Q49del1

c.143_145delGCT

1 paper

NM_001366028.2

p.E48fs

c.142_143fs

1 paper

NM_001366028.2

p.L41delFs

c.123delT

1 paper

NM_001366028.2

p.K42I

c.125A>T

1 paper

NM_001366028.2

p.T34I

c.101C>T

2 papers

NM_001366028.2

p.V32A

c.95T>C

1 paper

NM_001366028.2

p.V24V

c.72C>A

1 paper

NM_001366028.2

p.I23fs

c.67_68fs

1 paper

NM_001366028.2

p.K19E

c.55A>G