Varaico: Literature-Extracted Genetic Variants

Gene:HMCN2
Variant:p.R1586W

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.R1586W
c.4756C>T
Surrounding Variants
1 paper
NM_001291815.2
p.G1585D
c.4754G>A
1 paper
NM_001291815.2
p.T1532A
c.4594A>G
1 paper
NM_001291815.2
p.V1635M
c.4903G>A
1 paper
NM_001291815.2
p.E1663K
c.4987G>A
1 paper
NM_001291815.2
p.A1760T
c.5278G>A
1 paper
NM_001291815.2
p.E1761K
c.5281G>A
1 paper
NM_001291815.2
p.A1789T
c.5365G>A
1 paper
NM_001291815.2
p.V1803L
c.5407G>C
1 paper
NM_001291815.2
p.V1803L
c.5407G>T
1 paper
NM_001291815.2
p.T1467M
c.4400C>T
1 paper
NM_001291815.2
p.D1428H
c.4282G>C
1 paper
NM_001291815.2
p.F1855S
c.5564T>C
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