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.Q788*

c.2362C>T

Surrounding Variants

1 paper

NM_004369.4

p.Q788L

c.2363A>T

4 papers

NM_004369.4

p.A784_E785delFs

c.2352_2353delCT

1 paper

NM_004369.4

p.P793L

c.2378C>T

1 paper

NM_004369.4

p.D800N

c.2398G>A

1 paper

NM_004369.4

p.G770insFs

c.2309_2310insC

5 papers

NM_004369.4

p.A807T

c.2419G>A

2 papers

NM_004369.4

p.A769T

c.2305G>A

1 paper

NM_004369.4

p.R768H

c.2303G>A

1 paper

NM_004369.4

p.R768C

c.2302C>T

1 paper

NM_004369.4

p.R768G

c.2302C>G

2 papers

NM_004369.4

p.Q810*

c.2428C>T

1 paper

NM_004369.4

p.N764Y

c.2290A>T