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.T4238A

c.12712A>G

Surrounding Variants

1 paper

NM_031935.3

p.T4249I

c.12746C>T

2 papers

NM_031935.3

p.V4269M

c.12805G>A

2 papers

NM_031935.3

p.R4278L

c.12833G>T

1 paper

NM_031935.3

p.C4281F

c.12842G>T

1 paper

NM_031935.3

p.P4287S

c.12859C>T

1 paper

NM_031935.3

p.L4288S

c.12863T>C

1 paper

NM_031935.3

p.G4309delFs

c.12926delG

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