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.G4309delFs

c.12926delG

Surrounding Variants

2 papers

NM_031935.3

p.V4314A

c.12941T>C

3 papers

NM_031935.3

p.D4322V

c.12965A>T

1 paper

NM_031935.3

p.V4327M

c.12979G>A

1 paper

NM_031935.3

p.V4327L

c.12979G>C

1 paper

NM_031935.3

p.V4327L

c.12979G>T

1 paper

NM_031935.3

p.T4329I

c.12986C>T

1 paper

NM_031935.3

p.A4330T

c.12988G>A

1 paper

NM_031935.3

p.V4334I

c.13000G>A

1 paper

NM_031935.3

p.I4340insFs

c.13018_13019ins5

1 paper

NM_031935.3

p.I4340fs

c.13018_13019fs

1 paper

NM_031935.3

p.V4345M

c.13033G>A

2 papers

NM_031935.3

p.K4352R

c.13055A>G