Varaico: Literature-Extracted Genetic Variants

COL6A3

580 papers

RefSeq Summary

This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much large...

Pfam Domains

VWAaa 39–212UCSCvon Willebrand factor type A domain

VWAaa 242–414UCSCvon Willebrand factor type A domain

VWAaa 445–616UCSCvon Willebrand factor type A domain

VWAaa 639–811UCSCvon Willebrand factor type A domain

VWAaa 837–1008UCSCvon Willebrand factor type A domain

VWAaa 1029–1200UCSCvon Willebrand factor type A domain

Gene Aliases

HGNC Name

collagen type VI alpha 3 chain

HGNC Previous Name

collagen, type VI, alpha 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004369.4

p.S1320insFs

c.3958_3959ins4

Surrounding Variants

1 paper

NM_004369.4

p.S1320fs

c.3958_3959fs

1 paper

NM_004369.4

p.S1320insFs

c.3959_3960ins4

1 paper

NM_004369.4

p.F1324delFs

c.3972delG

1 paper

NM_004369.4

p.G1313V

c.3938G>T

1 paper

NM_004369.4

p.N1311I

c.3932A>T

1 paper

NM_004369.4

p.Q1309H

c.3927G>T

1 paper

NM_004369.4

p.Q1309H

c.3927G>C

1 paper

NM_057166.5

p.R724C

c.2170C>T

4 papers

NM_004369.4

p.R1331H

c.3992G>A

1 paper

NM_004369.4

p.R1308W

c.3922C>T

1 paper

NM_057164.5

p.P897del1

c.2689_2691delGGG

1 paper

NM_004369.4

p.P1337S

c.4009C>T