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.L760delFs

c.2279_2280delCA

Surrounding Variants

1 paper

NM_004369.4

p.S758_L760del0

c.2274_2279del6

1 paper

NM_004369.4

p.Y759_Q761del3

c.2275_2282del9

1 paper

NM_004369.4

p.A763T

c.2287G>A

1 paper

NM_004369.4

p.E756_S758del0

c.2267_2272del6

1 paper

NM_004369.4

p.N764Y

c.2290A>T

1 paper

NM_004369.4

p.R768C

c.2302C>T

1 paper

NM_004369.4

p.R768G

c.2302C>G

1 paper

NM_004369.4

p.R768H

c.2303G>A

2 papers

NM_004369.4

p.A769T

c.2305G>A

1 paper

NM_004369.4

p.G753R

c.2257G>A

1 paper

NM_004369.4

p.G770insFs

c.2309_2310insC

3 papers

NM_004369.4

p.R740C

c.2218C>T