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.G1479D

c.4436G>A

Surrounding Variants

1 paper

NM_031935.3

p.C1475C

c.4425C>T

1 paper

NM_031935.3

p.E1474Q

c.4420G>C

2 papers

NM_031935.3

p.R1469C

c.4405C>T

1 paper

NM_031935.3

p.D1490N

c.4468G>A

1 paper

NM_031935.3

p.K1492Splc

c.4475+9C>A

1 paper

NM_031935.3

p.N1461S

c.4382A>G

1 paper

NM_031935.3

p.I1434V

c.4300A>G

1 paper

NM_031935.3

p.Y1429S

c.4286A>C

1 paper

NM_031935.3

p.P1423P

c.4269A>G

1 paper

NM_031935.3

p.P1423S

c.4267C>T

1 paper

NM_031935.3

p.K1417N

c.4251G>C

1 paper

NM_031935.3

p.K1417N

c.4251G>T