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.R4430C

c.13288C>T

Surrounding Variants

10 papers

NM_031935.3

p.Q4437R

c.13310A>G

1 paper

NM_031935.3

p.T4418I

c.13253C>T

2 papers

NM_031935.3

p.V4410I

c.13228G>A

1 paper

NM_031935.3

p.T4409P

c.13225A>C

1 paper

NM_031935.3

p.Q4398K

c.13192C>A

2 papers

NM_031935.3

p.R4397Q

c.13190G>A

1 paper

NM_031935.3

p.R4397W

c.13189C>T

1 paper

NM_031935.3

p.K4386N

c.13158G>C

1 paper

NM_031935.3

p.K4386N

c.13158G>T

1 paper

NM_031935.3

p.N4384K

c.13152C>A

1 paper

NM_031935.3

p.N4384K

c.13152C>G

1 paper

NM_031935.3

p.P4379A

c.13135C>G