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.K2954delFs

c.8862delA

Surrounding Variants

1 paper

NM_031935.3

p.Y2955N

c.8863T>A

1 paper

NM_031935.3

p.T2948K

c.8843C>A

1 paper

NM_031935.3

p.N2959S

c.8876A>G

2 papers

NM_031935.3

p.Y2941D

c.8821T>G

1 paper

NM_031935.3

p.R2940R

c.8820G>A

7 papers

NM_031935.3

p.G2939S

c.8815G>A

1 paper

NM_031935.3

p.I2935M

c.8805A>G

1 paper

NM_031935.3

p.Q2934*

c.8800C>T

2 papers

NM_031935.3

p.R2926Q

c.8777G>A

1 paper

NM_031935.3

p.L2922I

c.8764C>A

1 paper

NM_031935.3

p.E2915K

c.8743G>A

1 paper

NM_031935.3

p.P2902T

c.8704C>A