Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD55
Variant:p.H549Q

ANKRD55

70 papers

Pfam Domains

Ank_2aa 31–124UCSCAnkyrin repeats (3 copies)
Ank_2aa 98–192UCSCAnkyrin repeats (3 copies)
Ank_2aa 187–262UCSCAnkyrin repeats (3 copies)
Ank_2aa 241–328UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 55

HGNC Alias Symbol

FLJ11795

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024669.3
p.H549Q
c.1647T>G
Surrounding Variants
1 paper
NM_024669.3
p.H549Q
c.1647T>A
1 paper
NM_024669.3
p.R554T
c.1661G>C
4 papers
NM_024669.3
p.R594*
c.1780C>T
1 paper
NM_024669.3
p.E613K
c.1837G>A
1 paper
NM_024669.3
p.P541P
c.1623A>G
1 paper
NM_024669.3
p.R523Q
c.1568G>A
1 paper
NM_024669.3
p.L519F
c.1557G>T
1 paper
NM_024669.3
p.L519F
c.1557G>C
1 paper
NM_024669.3
p.D517Y
c.1549G>T
1 paper
NM_024669.3
p.D497Y
c.1489G>T
1 paper
NM_024669.3
p.A467T
c.1399G>A
1 paper
NM_024669.3
p.I440V
c.1318A>G
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