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.R1192C

c.3574C>T

Surrounding Variants

1 paper

NM_004369.4

p.V1197I

c.3589G>A

1 paper

NM_004369.4

p.D1183N

c.3547G>A

1 paper

NM_004369.4

p.F1180L

c.3540C>G

1 paper

NM_004369.4

p.F1180L

c.3540C>A

1 paper

NM_004369.4

p.F1180L

c.3538T>C

1 paper

NM_057164.5

p.I758_I760del0

c.2274_2279del6

1 paper

NM_004369.4

p.Q1217*

c.3649C>T

2 papers

NM_004369.4

p.G1166V

c.3497G>T

1 paper

NM_004369.4

p.V1219fs

c.3655_3656fs

1 paper

NM_004369.4

p.V1219delFs

c.3656delA

1 paper

NM_004369.4

p.A1160V

c.3479C>T

1 paper

NM_004369.4

p.G1159R

c.3475G>C