Varaico: Literature-Extracted Genetic Variants

Gene:HMCN2
Variant:p.I511N

HMCN2

52 papers

Pfam Domains

VWA_4aa 38–199UCSCvon Willebrand factor A domain
GBD_Hemicentinaa 217–313UCSCHemicentin galactose-binding domain-like
Ig_3aa 516–591UCSCImmunoglobulin domain
I-setaa 608–693UCSCImmunoglobulin I-set domain
Ig_3aa 697–769UCSCImmunoglobulin domain
I-setaa 786–879UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

hemicentin 2

HGNC Alias Symbols

DKFZp434P0216; FLJ23816

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001291815.2
p.I511N
c.1532T>A
Surrounding Variants
1 paper
NM_001291815.2
p.R462Q
c.1385G>A
1 paper
NM_001291815.2
p.P434S
c.1300C>T
1 paper
NM_001291815.2
p.R555*
c.1663C>T
1 paper
NM_001291815.2
p.R563Q
c.1688G>A
1 paper
NM_001291815.2
p.V595F
c.1783G>T
1 paper
NM_001291815.2
p.R597_A598del2
c.1789_1793del6
1 paper
NM_001291815.2
p.R597W
c.1789A>T
1 paper
NM_001291815.2
p.C629S
c.1885T>A
1 paper
NM_001291815.2
p.C629S
c.1886G>C
1 paper
NM_001291815.2
p.R643H
c.1928G>A
1 paper
NM_001291815.2
p.S699*
c.2096C>A
1 paper
NM_001291815.2
p.R733Q
c.2198G>A
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