Varaico: Literature-Extracted Genetic Variants

Gene:HMCN2
Variant:p.A4644T

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.A4644T
c.13930G>A
Surrounding Variants
1 paper
NM_001291815.2
p.L4680M
c.14038C>A
1 paper
NM_001291815.2
p.D4696insFs
c.14087_14088insGA
1 paper
NM_001291815.2
p.A4697delFs
c.14091delT
1 paper
NM_001291815.2
p.R4705C
c.14113C>T
1 paper
NM_001291815.2
p.E4614K
c.13840G>A
1 paper
NM_001291815.2
p.C4750R
c.14248T>C
1 paper
NM_001291815.2
p.P4762delFs
c.14286delC
1 paper
NM_001291815.2
p.P4762fs
c.14284_14285fs
1 paper
NM_001291815.2
p.R4517Q
c.13550G>A
1 paper
NM_001291815.2
p.Q4514R
c.13541A>G
1 paper
NM_001291815.2
p.Q4795*
c.14383C>T
1 paper
NM_001291815.2
p.L4808V
c.14422C>G
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