Varaico: Literature-Extracted Genetic Variants

Gene:HMCN2
Variant:p.P2367L

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.P2367L
c.7100C>T
Surrounding Variants
1 paper
NM_001291815.2
p.R2327W
c.6979C>T
1 paper
NM_001291815.2
p.A2268T
c.6802G>A
1 paper
NM_001291815.2
p.S2454R
c.7360A>C
1 paper
NM_001291815.2
p.S2454R
c.7362T>A
1 paper
NM_001291815.2
p.S2454R
c.7362T>G
1 paper
NM_001291815.2
p.Y2242*
c.6726C>A
1 paper
NM_001291815.2
p.Y2242*
c.6726C>G
1 paper
NM_001291815.2
p.A2552T
c.7654G>A
1 paper
NM_001291815.2
p.G2209S
c.6625G>A
2 papers
NM_001291815.2
p.I2203M
c.6609C>G
1 paper
NM_001291815.2
p.D2141N
c.6421G>A
1 paper
NM_001291815.2
p.T2665N
c.7994C>A
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