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.G1026delFs

c.3076delC

Surrounding Variants

1 paper

NM_004369.4

p.V1024Splc

c.3071-2A>C

2 papers

NM_057165.5

p.V824M

c.2470G>A

NM_004369.4

p.V1030M

c.3088G>A

5 papers

NM_004369.4

p.V1031M

c.3091G>A

3 papers

NM_057166.5

p.V433I

c.1297G>A

NM_004369.4

p.V1040I

c.3118G>A

1 paper

NM_004369.4

p.E1038_V1040del3

c.3112_3119del9

1 paper

NM_004369.4

p.G1043G

c.3129C>T

1 paper

NM_004369.4

p.Q1052*

c.3154C>T

1 paper

NM_004369.4

p.D1063N

c.3187G>A

2 papers

NM_004369.4

p.R1064W

c.3190C>T

9 papers

NM_004369.4

p.R1064Q

c.3191G>A

1 paper

NM_004369.4

p.R1066S

c.3196C>A

1 paper

NM_004369.4

p.R1066H

c.3197G>A