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.P1423S

c.4267C>T

Surrounding Variants

1 paper

NM_031935.3

p.P1423P

c.4269A>G

1 paper

NM_031935.3

p.K1417N

c.4251G>C

1 paper

NM_031935.3

p.K1417N

c.4251G>T

1 paper

NM_031935.3

p.Y1429S

c.4286A>C

1 paper

NM_031935.3

p.I1434V

c.4300A>G

1 paper

NM_031935.3

p.T1406S

c.4217C>G

2 papers

NM_031935.3

p.T1406I

c.4217C>T

1 paper

NM_031935.3

p.T1406S

c.4216A>T

1 paper

NM_031935.3

p.Y1395F

c.4184A>T

1 paper

NM_031935.3

p.P1388fs

c.4162_4163fs

3 papers

NM_031935.3

p.P1388delFs

c.4163delC

1 paper

NM_031935.3

p.E1385K

c.4153G>A