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

1–12 of 930 variants

19 papers

NM_031935.3

p.Q5345R

c.16034A>G

12 papers

NM_031935.3

p.E2893G

c.8678A>G

10 papers

NM_031935.3

p.I2418T

c.7253T>C

10 papers

NM_031935.3

p.Q4437R

c.13310A>G

9 papers

NM_031935.3

p.H4084Y

c.12250C>T

7 papers

NM_031935.3

p.N1529S

c.4586A>G

7 papers

NM_031935.3

p.G2939S

c.8815G>A

7 papers

NM_031935.3

p.V3540I

c.10618G>A

7 papers

NM_031935.3

p.G3566D

c.10697G>A

6 papers

NM_031935.3

p.R5205H

c.15614G>A

5 papers

NM_031935.3

p.T1056A

c.3166A>G

5 papers

NM_031935.3

p.M2327I

c.6981G>A