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

10 papers

NM_004369.4

p.P3082R

c.9245C>G

Surrounding Variants

1 paper

NM_004369.4

p.I3095_N3096insFs

c.9285_9286insT

1 paper

NM_004369.4

p.H3071H

c.9213C>T

3 papers

NM_004369.4

p.Y3070C

c.9209A>G

NM_057166.5

p.Y2463C

c.7388A>G

10 papers

NM_004369.4

p.T3069I

c.9206C>T

1 paper

NM_004369.4

p.S3064F

c.9191C>T

1 paper

NM_004369.4

p.A3057V

c.9170C>T

4 papers

NM_004369.4

p.A3050T

c.9148G>A

NM_057166.5

p.A2443T

c.7327G>A

1 paper

NM_004369.4

p.V3044insFs

c.9130_9131insG

4 papers

NM_004369.4

p.V3044I

c.9130G>A

NM_057166.5

p.V2437I

c.7309G>A

11 papers

NM_004369.4

p.R3043H

c.9128G>A

1 paper

NM_004369.4

p.V3024I

c.9070G>A

1 paper

NM_004369.4

p.L3022_T3023del1

c.9065_9067delTGA