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

9 papers

NM_004369.4

p.D563G

c.1688A>G

Surrounding Variants

1 paper

NM_004369.4

p.L562V

c.1684C>G

1 paper

NM_004369.4

p.I565F

c.1693A>T

2 papers

NM_004369.4

p.K560*

c.1678A>T

2 papers

NM_004369.4

p.G559insFs

c.1676_1677insT

1 paper

NM_004369.4

p.T557I

c.1670C>T

1 paper

NM_004369.4

p.Q570*

c.1708C>T

1 paper

NM_004369.4

p.L555delFs

c.1663delG

1 paper

NM_004369.4

p.E571A

c.1712A>C

1 paper

NM_004369.4

p.K573N

c.1719G>T

1 paper

NM_004369.4

p.K573N

c.1719G>C

1 paper

NM_004369.4

p.R574I

c.1721G>T

1 paper

NM_004369.4

p.I549_K551delFs

c.1645_1652del8