Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD13B
Variant:p.G488R

ANKRD13B

36 papers

Pfam Domains

Ank_2aa 18–110UCSCAnkyrin repeats (3 copies)
ANKRD13_Caa 163–490UCSCANKRD13 C-terminal

Gene Aliases

HGNC Name

ankyrin repeat domain 13B

HGNC Alias Symbol

FLJ25555

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152345.5
p.G488R
c.1462G>C
Surrounding Variants
1 paper
NM_152345.5
p.R487H
c.1460G>A
1 paper
NM_152345.5
p.E477Q
c.1429G>C
1 paper
NM_152345.5
p.Q513_E518delFs
c.1537_1553del17
1 paper
NM_152345.5
p.Q513fs
c.1537_1538fs
1 paper
NM_152345.5
p.E518Q
c.1552G>C
1 paper
NM_152345.5
p.S459R
c.1377C>A
1 paper
NM_152345.5
p.S459R
c.1377C>G
1 paper
NM_152345.5
p.S459R
c.1375A>C
2 papers
NM_152345.5
p.E453K
c.1357G>A
1 paper
NM_152345.5
p.S449R
c.1347C>A
1 paper
NM_152345.5
p.S449R
c.1347C>G
1 paper
NM_152345.5
p.S449R
c.1345A>C
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