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

7 papers

NM_031935.3

p.N1529S

c.4586A>G

Surrounding Variants

1 paper

NM_031935.3

p.Q1534K

c.4600C>A

1 paper

NM_031935.3

p.Y1523Y

c.4569C>T

1 paper

NM_031935.3

p.R1522H

c.4565G>A

1 paper

NM_031935.3

p.R1517insFs

c.4549_4550insC

1 paper

NM_031935.3

p.V1509V

c.4527C>G

4 papers

NM_031935.3

p.D1505E

c.4515C>A

4 papers

NM_031935.3

p.D1505E

c.4515C>G

1 paper

NM_031935.3

p.K1492Splc

c.4476-227G>A

1 paper

NM_031935.3

p.K1492Splc

c.4475+9C>A

1 paper

NM_031935.3

p.D1490N

c.4468G>A

1 paper

NM_031935.3

p.G1479D

c.4436G>A

1 paper

NM_031935.3

p.C1475C

c.4425C>T