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

11 papers

NM_004369.4

p.G1679E

c.5036G>A

Surrounding Variants

1 paper

NM_004369.4

p.G1679A

c.5036G>C

8 papers

NM_004369.4

p.G1679W

c.5035G>T

1 paper

NM_004369.4

p.V1678V

c.5034G>T

1 paper

NM_004369.4

p.V1678_G1679insFs

c.5034_5035insC

2 papers

NM_004369.4

p.V1678V

c.5034G>C

1 paper

NM_004369.4

p.L1680F

c.5038C>T

1 paper

NM_004369.4

p.Q1677*

c.5029C>T

1 paper

NM_004369.4

p.Q1682R

c.5045A>G

2 papers

NM_004369.4

p.I1676_Q1677insT

c.5026_5030ins3

6 papers

NM_004369.4

p.D1674N

c.5020G>A

NM_057166.5

p.D1067N

c.3199G>A

3 papers

NM_004369.4

p.P1687S

c.5059C>T

1 paper

NM_004369.4

p.Y1670*

c.5010T>G