Varaico: Literature-Extracted Genetic Variants

Gene:HMCN2
Variant:p.L153P

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.L153P
c.458T>C
Surrounding Variants
1 paper
NM_001291815.2
p.Q161E
c.481C>G
1 paper
NM_001291815.2
p.T94M
c.281C>T
1 paper
NM_001291815.2
p.S190R
c.568A>C
1 paper
NM_001291815.2
p.K199_Q200delFs
c.597_598delGC
1 paper
NM_001291815.2
p.I213_Q214del2
c.637_641del6
1 paper
NM_001291815.2
p.S216_K217ins4
c.646_650ins12
1 paper
NM_001291815.2
p.S247S
c.741A>T
1 paper
NM_001291815.2
p.E254Q
c.760G>C
1 paper
NM_001291815.2
p.P260L
c.779C>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."