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

3 papers

NM_057166.5

p.E769K

c.2305G>A

Surrounding Variants

1 paper

NM_004369.4

p.E1376*

c.4126G>T

2 papers

NM_004369.4

p.D1374V

c.4121A>T

4 papers

NM_004369.4

p.A1373T

c.4117G>A

1 paper

NM_004369.4

p.A1370T

c.4108G>A

2 papers

NM_004369.4

p.T1368M

c.4103C>T

1 paper

NM_057166.5

p.A758_F760del0

c.2274_2279del6

18 papers

NM_004369.4

p.E1386K

c.4156G>A

3 papers

NM_004369.4

p.V1364M

c.4090G>A

1 paper

NM_004369.4

p.G1363D

c.4088G>A

1 paper

NM_004369.4

p.R1395W

c.4183C>T

14 papers

NM_004369.4

p.R1395Q

c.4184G>A

1 paper

NM_004369.4

p.L1397L

c.4191G>T