Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD53
Variant:p.M479T

ANKRD53

47 papers

Pfam Domains

Ankaa 139–172UCSCAnkyrin repeat
Ank_2aa 163–241UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 53

HGNC Alias Symbols

FLJ12056; FLJ36160

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001115116.2
p.M479T
c.1436T>C
Surrounding Variants
1 paper
NM_001115116.2
p.M500T
c.1499T>C
1 paper
NM_001115116.2
p.L450R
c.1349T>G
1 paper
NM_001115116.2
p.P448P
c.1344G>A
1 paper
NM_001115116.2
p.T438A
c.1312A>G
1 paper
NM_001115116.2
p.P521A
c.1561C>G
1 paper
NM_001115116.2
p.T522P
c.1564A>C
1 paper
NM_001115116.2
p.L436V
c.1306C>G
1 paper
NM_001115116.2
p.L523delFs
c.1568_1569delTG
1 paper
NM_001115116.2
p.L523fs
c.1567_1568fs
5 papers
NM_001115116.2
p.L523P
c.1568T>C
1 paper
NM_001115116.2
p.L523_P524ins1
c.1569_1570insCCC
1 paper
NM_001115116.2
p.S525P
c.1573T>C
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