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.N1118T

c.3353A>C

Surrounding Variants

1 paper

NM_004369.4

p.N1118H

c.3352A>C

1 paper

NM_004369.4

p.A1110_I1119del10

c.3328_3356del30

1 paper

NM_004369.4

p.L1116P

c.3347T>C

1 paper

NM_004369.4

p.V1121A

c.3362T>C

1 paper

NM_004369.4

p.E1113Q

c.3337G>C

1 paper

NM_004369.4

p.P1106_L1112insFs

c.3316_3334dup19

2 papers

NM_004369.4

p.A1124V

c.3371C>T

1 paper

NM_004369.4

p.L1112fs

c.3334_3335fs

1 paper

NM_057166.5

p.G496_A504delFs

c.1487_1512del26

2 papers

NM_004369.4

p.A1111T

c.3331G>A

2 papers

NM_004369.4

p.R1127K

c.3380G>A

1 paper

NM_004369.4

p.P1104L

c.3311C>T