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.E594K

c.1780G>A

Surrounding Variants

1 paper

NM_004369.4

p.E593G

c.1778A>G

3 papers

NM_004369.4

p.A596S

c.1786G>T

1 paper

NM_004369.4

p.L592L

c.1774C>T

1 paper

NM_004369.4

p.A596V

c.1787C>T

1 paper

NM_004369.4

p.F597F

c.1791C>T

1 paper

NM_004369.4

p.D598Y

c.1792G>T

1 paper

NM_004369.4

p.S599Y

c.1796C>A

3 papers

NM_004369.4

p.D588N

c.1762G>A

1 paper

NM_004369.4

p.A606P

c.1816G>C

1 paper

NM_004369.4

p.I582F

c.1744A>T

1 paper

NM_004369.4

p.A581del1

c.1741_1742delGGC

1 paper

NM_004369.4

p.E591_A606delFs

c.1771_1816del46