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.G646R

c.1936G>A

Surrounding Variants

1 paper

NM_004369.4

p.G646R

c.1936G>C

1 paper

NM_004369.4

p.L644_D645delFs

c.1932_1935del4

1 paper

NM_004369.4

p.L643I

c.1927C>A

1 paper

NM_004369.4

p.F642S

c.1925T>C

1 paper

NM_004369.4

p.V650I

c.1948G>A

1 paper

NM_004369.4

p.N636N

c.1908C>T

1 paper

NM_004369.4

p.S635*

c.1904C>G

1 paper

NM_004369.4

p.S635*

c.1904C>A

1 paper

NM_004369.4

p.S635A

c.1903T>G

1 paper

NM_004369.4

p.R659C

c.1975C>T

3 papers

NM_004369.4

p.R659H

c.1976G>A

1 paper

NM_004369.4

p.R659R

c.1977C>T