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

10 papers

NM_004369.4

p.R465*

c.1393C>T

Surrounding Variants

1 paper

NM_004369.4

p.F461L

c.1383C>A

1 paper

NM_004369.4

p.F467_I468del1

c.1401_1403delATG

1 paper

NM_004369.4

p.G457*

c.1369G>T

1 paper

NM_004369.4

p.G457R

c.1369G>C

1 paper

NM_004369.4

p.G457R

c.1369G>A

1 paper

NM_004369.4

p.A455V

c.1364C>T

1 paper

NM_004369.4

p.S454Y

c.1361C>A

1 paper

NM_004369.4

p.G478E

c.1433G>A

1 paper

NM_004369.4

p.L481V

c.1441C>G

1 paper

NM_004369.4

p.A485S

c.1453G>T

1 paper

NM_004369.4

p.D445N

c.1333G>A

3 papers

NM_004369.4

p.D491H

c.1471G>C