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.F1655L

c.4965C>G

Surrounding Variants

1 paper

NM_004369.4

p.D1645_R1652del8

c.4933_4955del24

1 paper

NM_004369.4

p.R1652S

c.4956G>T

1 paper

NM_004369.4

p.R1652S

c.4956G>C

2 papers

NM_004369.4

p.R1660C

c.4978C>T

1 paper

NM_004369.4

p.V1662A

c.4985T>C

1 paper

NM_004369.4

p.E1664K

c.4990G>A

5 papers

NM_004369.4

p.L1643R

c.4928T>G

1 paper

NM_004369.4

p.T1668K

c.5003C>A

1 paper

NM_004369.4

p.Y1670*

c.5010T>G

1 paper

NM_004369.4

p.Y1670*

c.5010T>A

9 papers

NM_004369.4

p.A1638T

c.4912G>A

NM_057166.5

p.A1031T

c.3091G>A

6 papers

NM_004369.4

p.D1674N

c.5020G>A

NM_057166.5

p.D1067N

c.3199G>A