Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD13A
Variant:p.L505P

ANKRD13A

41 papers

Pfam Domains

Ank_2aa 13–104UCSCAnkyrin repeats (3 copies)
ANKRD13_Caa 156–470UCSCANKRD13 C-terminal

Gene Aliases

HGNC Name

ankyrin repeat domain 13A

HGNC Previous Symbol

ANKRD13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_033121.2
p.L505P
c.1514T>C
Surrounding Variants
1 paper
NM_033121.2
p.I514N
c.1541T>A
1 paper
NM_033121.2
p.Y520*
c.1560T>A
1 paper
NM_033121.2
p.Y520*
c.1560T>G
1 paper
NM_033121.2
p.A527G
c.1580C>G
1 paper
NM_033121.2
p.S545S
c.1635C>T
1 paper
NM_033121.2
p.T547K
c.1640C>A
1 paper
NM_033121.2
p.S548G
c.1642A>G
1 paper
NM_033121.2
p.A557G
c.1670C>G
1 paper
NM_033121.2
p.S561A
c.1681T>G
1 paper
NM_033121.2
p.E564Q
c.1690G>C
1 paper
NM_033121.2
p.V582G
c.1745T>G
1 paper
NM_033121.2
p.Q584R
c.1751A>G
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