Varaico: Literature-Extracted Genetic Variants

Gene:HMCN2

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
1–12 of 143 variants
2 papers
NM_001291815.2
p.V311I
c.931G>A
2 papers
NM_001291815.2
p.P815Q
c.2444C>A
2 papers
NM_001291815.2
p.G2055E
c.6164G>A
2 papers
NM_001291815.2
p.I2203M
c.6609C>G
2 papers
NM_001291815.2
p.R4343W
c.13027C>T
1 paper
NM_001291815.2
p.A16_V18del0
c.48_53del6
1 paper
NM_001291815.2
p.P31S
c.91C>T
1 paper
NM_001291815.2
p.S48_L53del6
c.142_158del18
1 paper
NM_001291815.2
p.L53L
c.157C>T
1 paper
NM_001291815.2
p.R71_S72delFs
c.213_214delCA
1 paper
NM_001291815.2
p.S72_Q73insFs
c.216_217ins4
1 paper
NM_001291815.2
p.T94M
c.281C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."