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

3 papers

NM_031935.3

p.Q1118H

c.3354G>T

Surrounding Variants

3 papers

NM_031935.3

p.Q1118H

c.3354G>C

1 paper

NM_031935.3

p.V1091I

c.3271G>A

1 paper

NM_031935.3

p.V1087I

c.3259G>A

1 paper

NM_031935.3

p.P1086S

c.3256C>T

1 paper

NM_031935.3

p.S1082F

c.3245C>T

1 paper

NM_031935.3

p.R1079*

c.3235C>T

1 paper

NM_031935.3

p.G1076*

c.3226G>T

1 paper

NM_031935.3

p.R1126Splc

c.3377+140C>T

5 papers

NM_031935.3

p.T1056A

c.3166A>G

1 paper

NM_031935.3

p.A1030T

c.3088G>A

2 papers

NM_031935.3

p.K1027T

c.3080A>C

1 paper

NM_031935.3

p.K1027M

c.3080A>T