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.T2456M

c.7367C>T

Surrounding Variants

1 paper

NM_004369.4

p.T2455T

c.7365C>T

1 paper

NM_004369.4

p.E2453Q

c.7357G>C

1 paper

NM_004369.4

p.V2448I

c.7342G>A

1 paper

NM_004369.4

p.R2465R

c.7395G>A

1 paper

NM_004369.4

p.S2467L

c.7400C>T

1 paper

NM_004369.4

p.R2444W

c.7330C>T

1 paper

NM_004369.4

p.A2443G

c.7328C>G

2 papers

NM_004369.4

p.A2443T

c.7327G>A

1 paper

NM_004369.4

p.D2431V

c.7292A>T

30 papers

NM_004369.4

p.K2483E

c.7447A>G

1 paper

NM_004369.4

p.V2429M

c.7285G>A

4 papers

NM_004369.4

p.R2422*

c.7264C>T