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

2 papers

NM_031935.3

p.G3685A

c.11054G>C

Surrounding Variants

1 paper

NM_031935.3

p.D3683H

c.11047G>C

1 paper

NM_031935.3

p.N3689D

c.11065A>G

1 paper

NM_031935.3

p.L3677V

c.11029T>G

1 paper

NM_031935.3

p.G3699E

c.11096G>A

1 paper

NM_031935.3

p.L3671V

c.11011C>G

1 paper

NM_031935.3

p.K3700R

c.11099A>G

1 paper

NM_031935.3

p.R3669Q

c.11006G>A

1 paper

NM_031935.3

p.R3669*

c.11005C>T

1 paper

NM_031935.3

p.E3704*

c.11110G>T

1 paper

NM_031935.3

p.V3711Splc

c.11131+18T>C

1 paper

NM_031935.3

p.K3716fs

c.11146_11147fs

1 paper

NM_031935.3

p.K3716delFs

c.11148delG