Varaico: Literature-Extracted Genetic Variants

HMCN1

529 papers

RefSeq Summary

This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many proc...

Pfam Domains

VWA_4aa 41–202UCSCvon Willebrand factor A domain

GBD_Hemicentinaa 220–316UCSCHemicentin galactose-binding domain-like

I-setaa 520–608UCSCImmunoglobulin I-set domain

I-setaa 612–697UCSCImmunoglobulin I-set domain

I-setaa 702–789UCSCImmunoglobulin I-set domain

I-setaa 793–884UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

hemicentin 1

HGNC Previous Symbol

ARMD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_031935.3

p.R5205H

c.15614G>A

Surrounding Variants

1 paper

NM_031935.3

p.R5205C

c.15613C>T

1 paper

NM_031935.3

p.C5206Y

c.15617G>A

1 paper

NM_031935.3

p.H5203Q

c.15609C>A

1 paper

NM_031935.3

p.H5203Q

c.15609C>G

1 paper

NM_031935.3

p.N5208D

c.15622A>G

1 paper

NM_031935.3

p.P5201S

c.15601C>T

1 paper

NM_031935.3

p.G5225C

c.15673G>T

4 papers

NM_031935.3

p.H5244Q

c.15732C>A

5 papers

NM_031935.3

p.H5244Q

c.15732C>G

2 papers

NM_031935.3

p.I5255T

c.15764T>C

1 paper

NM_031935.3

p.C5258S

c.15772T>A

1 paper

NM_031935.3

p.C5258S

c.15773G>C