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.K3006R

c.9017A>G

Surrounding Variants

1 paper

NM_004369.4

p.S3004_A3005del2

c.9010_9014del6

1 paper

NM_004369.4

p.S3004S

c.9012C>T

1 paper

NM_004369.4

p.S3004C

c.9010A>T

8 papers

NM_004369.4

p.A3012P

c.9034G>C

1 paper

NM_004369.4

p.F2998C

c.8993T>G

1 paper

NM_004369.4

p.G3016fs

c.9046_9047fs

1 paper

NM_004369.4

p.P3015insFs

c.9045dupC

1 paper

NM_004369.4

p.R2993H

c.8978G>A

1 paper

NM_004369.4

p.L3022_T3023del1

c.9065_9067delTGA

5 papers

NM_004369.4

p.V2989Splc

c.8966-1G>C

1 paper

NM_004369.4

p.V2989Splc

c.8966-1G>A

1 paper

NM_004369.4

p.V3024I

c.9070G>A