Varaico: Literature-Extracted Genetic Variants

Gene:HMCN2
Variant:p.V311I

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
2 papers
NM_001291815.2
p.V311I
c.931G>A
Surrounding Variants
1 paper
NM_001291815.2
p.P260L
c.779C>T
1 paper
NM_001291815.2
p.E254Q
c.760G>C
1 paper
NM_001291815.2
p.S247S
c.741A>T
1 paper
NM_001291815.2
p.S216_K217ins4
c.646_650ins12
1 paper
NM_001291815.2
p.I213_Q214del2
c.637_641del6
1 paper
NM_001291815.2
p.L369_P376del0
c.1105_1128del24
1 paper
NM_001291815.2
p.N410K
c.1230C>A
1 paper
NM_001291815.2
p.N410K
c.1230C>G
1 paper
NM_001291815.2
p.P434S
c.1300C>T
1 paper
NM_001291815.2
p.R462Q
c.1385G>A
1 paper
NM_001291815.2
p.I511N
c.1532T>A
1 paper
NM_001291815.2
p.R555*
c.1663C>T
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