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.N1707K

c.5121C>G

Surrounding Variants

1 paper

NM_004369.4

p.A1705D

c.5114C>A

1 paper

NM_004369.4

p.Y1711*

c.5133C>G

1 paper

NM_004369.4

p.Y1711*

c.5133C>A

1 paper

NM_004369.4

p.G1714E

c.5141G>A

1 paper

NM_004369.4

p.R1700G

c.5098A>G

1 paper

NM_004369.4

p.A1717insFs

c.5150_5151insT

1 paper

NM_004369.4

p.N1718fs

c.5152_5153fs

1 paper

NM_004369.4

p.K1720*

c.5158A>T

1 paper

NM_004369.4

p.N1718_K1720del0

c.5154_5159del6

1 paper

NM_004369.4

p.G1722S

c.5164G>A

1 paper

NM_004369.4

p.F1691L

c.5073C>G

1 paper

NM_004369.4

p.F1691L

c.5073C>A