Varaico: Literature-Extracted Genetic Variants

Gene:ATAD5
Variant:p.N699H

ATAD5

120 papers

Pfam Domains

AAAaa 1128–1217UCSCATPase family associated with various cellular activities (AAA)

Gene Aliases

HGNC Name

ATPase family AAA domain containing 5

HGNC Previous Symbol

C17orf41

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_024857.5
p.N699H
c.2095A>C
Surrounding Variants
1 paper
NM_024857.5
p.S701*
c.2102C>A
1 paper
NM_024857.5
p.S701*
c.2102C>G
1 paper
NM_024857.5
p.S718*
c.2153C>A
1 paper
NM_024857.5
p.S718*
c.2153C>G
1 paper
NM_024857.5
p.E723*
c.2167G>T
1 paper
NM_024857.5
p.R730H
c.2189G>A
1 paper
NM_024857.5
p.E747_D748Splc
c.2241+278G>T
1 paper
NM_024857.5
p.S679F
c.2036C>T
1 paper
NM_024857.5
p.K678insFs
c.2033_2034insC
1 paper
NM_024857.5
p.K786E
c.2356A>G
1 paper
NM_024857.5
p.P648_F649Fs
c.1944_1945delinsCFs
1 paper
NM_024857.5
p.S638I
c.1913G>T
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