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.R3615S

c.10845A>C

Surrounding Variants

1 paper

NM_031935.3

p.R3615S

c.10845A>T

1 paper

NM_031935.3

p.H3617N

c.10849C>A

1 paper

NM_031935.3

p.P3604S

c.10810C>T

2 papers

NM_031935.3

p.P3650T

c.10948C>A

1 paper

NM_031935.3

p.R3661Q

c.10982G>A

1 paper

NM_031935.3

p.R3661P

c.10982G>C

1 paper

NM_031935.3

p.D3573E

c.10719T>A

1 paper

NM_031935.3

p.D3573E

c.10719T>G

1 paper

NM_031935.3

p.P3568P

c.10704C>G

7 papers

NM_031935.3

p.G3566D

c.10697G>A

1 paper

NM_031935.3

p.T3561I

c.10682C>T

1 paper

NM_031935.3

p.E3547V

c.10640A>T