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.L5372F

c.16114C>T

Surrounding Variants

1 paper

NM_031935.3

p.G5351R

c.16051G>A

1 paper

NM_031935.3

p.G5351R

c.16051G>C

1 paper

NM_031935.3

p.L5394I

c.16180C>A

1 paper

NM_031935.3

p.D5350Y

c.16048G>T

1 paper

NM_031935.3

p.L5347V

c.16039T>G

19 papers

NM_031935.3

p.Q5345R

c.16034A>G

1 paper

NM_031935.3

p.Q5345del1

c.16033_16034delCAA

1 paper

NM_031935.3

p.Y5401S

c.16202A>C

1 paper

NM_031935.3

p.C5339R

c.16015T>C

1 paper

NM_031935.3

p.S5407S

c.16221T>G

1 paper

NM_031935.3

p.G5335S

c.16003G>A

1 paper

NM_031935.3

p.P5334P

c.16002C>T