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.S1712F

c.5135C>T

Surrounding Variants

1 paper

NM_001366028.2

p.Y1727H

c.5179T>C

1 paper

NM_001366028.2

p.A1690T

c.5068G>A

1 paper

NM_001366028.2

p.A1687T

c.5059G>A

3 papers

NM_001366028.2

p.D1683A

c.5048A>C

1 paper

NM_001366028.2

p.C1774_N1775del2

c.5320_5324del6

1 paper

NM_001366028.2

p.R1787H

c.5360G>A

1 paper

NM_001366028.2

p.M1651delFs

c.4952delA

2 papers

NM_001366028.2

p.D1572N

c.4714G>A

1 paper

NM_001366028.2

p.K1563M

c.4688A>T

1 paper

NM_001366028.2

p.M1554L

c.4660A>T

1 paper

NM_001366028.2

p.M1554L

c.4660A>C

1 paper

NM_001366028.2

p.L1798S

c.5393T>C