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.K3716fs

c.11146_11147fs

Surrounding Variants

1 paper

NM_031935.3

p.K3716delFs

c.11148delG

1 paper

NM_031935.3

p.G3717R

c.11149G>A

1 paper

NM_031935.3

p.G3717R

c.11149G>C

1 paper

NM_031935.3

p.G3718D

c.11153G>A

1 paper

NM_031935.3

p.S3721I

c.11162G>T

1 paper

NM_031935.3

p.I3724M

c.11172T>G

1 paper

NM_031935.3

p.L3725P

c.11174T>C

2 papers

NM_031935.3

p.A3736T

c.11206G>A

1 paper

NM_031935.3

p.R3759*

c.11275A>T

1 paper

NM_031935.3

p.S3772A

c.11314T>G

3 papers

NM_031935.3

p.T3778I

c.11333C>T

1 paper

NM_031935.3

p.R3780W

c.11338C>T