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

26 papers

NM_004369.4

p.P2070_G2071Splc

c.6210+1G>A

Surrounding Variants

3 papers

NM_004369.4

p.P2070_G2071Splc

c.6210+1G>T

2 papers

NM_004369.4

p.P2070_G2071Splc

c.6210+1G>C

2 papers

NM_004369.4

p.P2070del1

c.6208_6209delGGG

2 papers

NM_004369.4

p.P2070_G2071Splc

c.6210+2T>A

2 papers

NM_004369.4

p.P2070P

c.6210C>T

1 paper

NM_004369.4

p.P2070P

c.6210C>G

1 paper

NM_004369.4

p.P2070P

c.6210C>A

1 paper

NM_004369.4

p.P2070_G2071Splc

c.6210+3A>G

1 paper

NM_004369.4

p.P2070S

c.6208C>T

3 papers

NM_004369.4

p.P2070_G2071Splc

c.6210+5G>A

1 paper

NM_004369.4

p.G2069V

c.6206G>T

2 papers

NM_004369.4

p.G2068C

c.6202G>T