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

30 papers

NM_004369.4

p.K2483E

c.7447A>G

Surrounding Variants

1 paper

NM_004369.4

p.S2492L

c.7475C>T

1 paper

NM_004369.4

p.A2495T

c.7483G>A

1 paper

NM_004369.4

p.S2467L

c.7400C>T

1 paper

NM_004369.4

p.R2465R

c.7395G>A

4 papers

NM_004369.4

p.R2501H

c.7502G>A

1 paper

NM_004369.4

p.R2503S

c.7509G>T

1 paper

NM_004369.4

p.R2503S

c.7509G>C

1 paper

NM_004369.4

p.N2504N

c.7512C>T

3 papers

NM_057166.5

p.G1898R

c.5692G>C

3 papers

NM_057166.5

p.G1898R

c.5692G>A

1 paper

NM_004369.4

p.T2456M

c.7367C>T

1 paper

NM_004369.4

p.T2455T

c.7365C>T