Varaico: Literature-Extracted Genetic Variants

Gene:HMCN2
Variant:p.G2055E

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.G2055E
c.6164G>A
Surrounding Variants
1 paper
NM_001291815.2
p.R2050W
c.6148C>T
1 paper
NM_001291815.2
p.V2126I
c.6376G>A
1 paper
NM_001291815.2
p.R1981W
c.5941C>T
1 paper
NM_001291815.2
p.H1932R
c.5795A>G
1 paper
NM_001291815.2
p.G1931D
c.5792G>A
1 paper
NM_001291815.2
p.D2141N
c.6421G>A
2 papers
NM_001291815.2
p.I2203M
c.6609C>G
1 paper
NM_001291815.2
p.G2209S
c.6625G>A
1 paper
NM_001291815.2
p.V1893Splc
c.5678-8C>T
1 paper
NM_001291815.2
p.E1886K
c.5656G>A
1 paper
NM_001291815.2
p.R1867W
c.5599A>T
1 paper
NM_001291815.2
p.F1855S
c.5564T>C
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