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.G1787R

c.5359G>C

Surrounding Variants

1 paper

NM_004369.4

p.G1787R

c.5359G>A

1 paper

NM_004369.4

p.V1786A

c.5357T>C

1 paper

NM_004369.4

p.R1779T

c.5336G>C

1 paper

NM_004369.4

p.A1796T

c.5386G>A

1 paper

NM_004369.4

p.A1796V

c.5387C>T

1 paper

NM_004369.4

p.R1798H

c.5393G>A

1 paper

NM_004369.4

p.R1798R

c.5394C>T

1 paper

NM_004369.4

p.V1799M

c.5395G>A

1 paper

NM_004369.4

p.G1800A

c.5399G>C

1 paper

NM_004369.4

p.G1770V

c.5309G>T

1 paper

NM_004369.4

p.E1804K

c.5410G>A

1 paper

NM_004369.4

p.E1804D

c.5412G>T