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

5 papers

NM_031935.3

p.M2327I

c.6981G>A

Surrounding Variants

5 papers

NM_031935.3

p.M2327I

c.6981G>C

5 papers

NM_031935.3

p.M2327I

c.6981G>T

1 paper

NM_031935.3

p.M2327V

c.6979A>G

1 paper

NM_031935.3

p.P2332R

c.6995C>G

1 paper

NM_031935.3

p.I2319S

c.6956T>G

1 paper

NM_031935.3

p.R2306Q

c.6917G>A

2 papers

NM_031935.3

p.L2350M

c.7048C>A

1 paper

NM_031935.3

p.R2360C

c.7078C>T

4 papers

NM_031935.3

p.R2360H

c.7079G>A

1 paper

NM_031935.3

p.C2363S

c.7087T>A

1 paper

NM_031935.3

p.C2363S

c.7088G>C

1 paper

NM_031935.3

p.A2365T

c.7093G>A