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

1 paper

NM_031935.3

p.E4175K

c.12523G>A

Surrounding Variants

2 papers

NM_031935.3

p.T4179M

c.12536C>T

1 paper

NM_031935.3

p.R4170G

c.12508A>G

1 paper

NM_031935.3

p.L4208I

c.12622C>A

1 paper

NM_031935.3

p.Y4221*

c.12663T>A

1 paper

NM_031935.3

p.Y4221*

c.12663T>G

1 paper

NM_031935.3

p.T4238A

c.12712A>G

1 paper

NM_031935.3

p.A4136T

c.12406G>A

1 paper

NM_031935.3

p.T4249I

c.12746C>T

1 paper

NM_031935.3

p.L4133insFs

c.12397_12398ins5

1 paper

NM_031935.3

p.V4127I

c.12379G>A

1 paper

NM_031935.3

p.R4126H

c.12377G>A

2 papers

NM_031935.3

p.R4124H

c.12371G>A