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.V3846V

c.11538G>A

Surrounding Variants

1 paper

NM_031935.3

p.V3846A

c.11537T>C

1 paper

NM_031935.3

p.H3801L

c.11402A>T

1 paper

NM_031935.3

p.H3801Y

c.11401C>T

1 paper

NM_031935.3

p.R3795Q

c.11384G>A

1 paper

NM_031935.3

p.R3795*

c.11383C>T

3 papers

NM_031935.3

p.R3793H

c.11378G>A

1 paper

NM_031935.3

p.R3793G

c.11377C>G

1 paper

NM_031935.3

p.D3792Y

c.11374G>T

1 paper

NM_031935.3

p.T3786S

c.11357C>G

1 paper

NM_031935.3

p.T3786S

c.11356A>T

1 paper

NM_031935.3

p.R3780W

c.11338C>T

3 papers

NM_031935.3

p.T3778I

c.11333C>T