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.R2115C

c.6343C>T

Surrounding Variants

1 paper

NM_001366028.2

p.R2119H

c.6356G>A

1 paper

NM_001366028.2

p.A2131T

c.6391G>A

1 paper

NM_001366028.2

p.Q2096*

c.6286C>T

1 paper

NM_001366028.2

p.T2137A

c.6409A>G

2 papers

NM_001366028.2

p.S2178*

c.6533C>G

1 paper

NM_001366028.2

p.S2178*

c.6533C>A

1 paper

NM_001366028.2

p.Q2189K

c.6565C>A

1 paper

NM_001366028.2

p.I2250F

c.6748A>T

1 paper

NM_001366028.2

p.L2265P

c.6794T>C

1 paper

NM_001366028.2

p.G2270E

c.6809G>A

1 paper

NM_001366028.2

p.P2077S

c.6229C>T

1 paper

NM_001366028.2

p.T2286_R2287del2

c.6856_6860del6