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.R1013C

c.3037C>T

Surrounding Variants

1 paper

NM_001366028.2

p.L987F

c.2961A>T

1 paper

NM_001366028.2

p.L987F

c.2961A>C

1 paper

NM_001366028.2

p.V978L

c.2932G>C

1 paper

NM_001366028.2

p.R1018Splc

c.3054-6C>T

1 paper

NM_001366028.2

p.E1069_G1070insAC

c.3205_3209ins6

1 paper

NM_001366028.2

p.L1078F

c.3232C>T

1 paper

NM_001366028.2

p.R1101R

c.3303G>C

1 paper

NM_001366028.2

p.H1104D

c.3310C>G

1 paper

NM_001366028.2

p.V1106delFs

c.3317delA

1 paper

NM_001366028.2

p.A973S

c.2917G>T

1 paper

NM_001366028.2

p.D967N

c.2899G>A

1 paper

NM_001366028.2

p.V961A

c.2882T>C