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.L693insFs

c.2077_2078insG

Surrounding Variants

2 papers

NM_004369.4

p.E690Q

c.2068G>C

1 paper

NM_004369.4

p.Q697Q

c.2091G>A

1 paper

NM_057165.5

p.T492S

c.1474A>T

1 paper

NM_004369.4

p.T698I

c.2093C>T

1 paper

NM_057165.5

p.T492S

c.1475C>G

1 paper

NM_004369.4

p.T686I

c.2057C>T

1 paper

NM_004369.4

p.S700L

c.2099C>T

1 paper

NM_004369.4

p.D685H

c.2053G>C

2 papers

NM_004369.4

p.D701N

c.2101G>A

1 paper

NM_004369.4

p.D701V

c.2102A>T

1 paper

NM_004369.4

p.D701D

c.2103T>C

1 paper

NM_004369.4

p.L703ins1

c.2107_2108insAGG