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

2 papers

NM_001366028.2

p.R1999*

c.5995C>T

Surrounding Variants

1 paper

NM_001366028.2

p.R1957insFs

c.5869_5870ins16

1 paper

NM_001366028.2

p.N1952K

c.5856C>G

1 paper

NM_001366028.2

p.N1952K

c.5856C>A

1 paper

NM_001366028.2

p.A1947G

c.5840C>G

1 paper

NM_001366028.2

p.V1921M

c.5761G>A

1 paper

NM_001366028.2

p.G1916V

c.5747G>T

1 paper

NM_001366028.2

p.G1914S

c.5740G>A

1 paper

NM_001366028.2

p.T1913K

c.5738C>A

1 paper

NM_001366028.2

p.W2007Splc

c.6021-3A>G

1 paper

NM_001366028.2

p.D2009N

c.6025G>A

1 paper

NM_001366028.2

p.K2011N

c.6033G>T

1 paper

NM_001366028.2

p.K2011N

c.6033G>C