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.T538M

c.1613C>T

Surrounding Variants

1 paper

NM_004369.4

p.T538T

c.1614G>A

1 paper

NM_004369.4

p.S539N

c.1616G>A

1 paper

NM_004369.4

p.N534delFs

c.1602delG

1 paper

NM_004369.4

p.G542S

c.1624G>A

1 paper

NM_004369.4

p.N534S

c.1601A>G

2 papers

NM_004369.4

p.R533C

c.1597C>T

1 paper

NM_004369.4

p.R544W

c.1630C>T

1 paper

NM_004369.4

p.R544L

c.1631G>T

1 paper

NM_004369.4

p.R544Q

c.1631G>A

1 paper

NM_004369.4

p.A545V

c.1634C>T

1 paper

NM_057166.5

p.D123N

c.367G>A

1 paper

NM_004369.4

p.A546A

c.1638C>T