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

1–12 of 1169 variants

30 papers

NM_004369.4

p.K2483E

c.7447A>G

26 papers

NM_004369.4

p.P2070_G2071Splc

c.6210+1G>A

18 papers

NM_004369.4

p.E1386K

c.4156G>A

14 papers

NM_004369.4

p.R1395Q

c.4184G>A

11 papers

NM_004369.4

p.G1679E

c.5036G>A

11 papers

NM_004369.4

p.R3043H

c.9128G>A

10 papers

NM_004369.4

p.R465*

c.1393C>T

10 papers

NM_004369.4

p.T3069I

c.9206C>T

10 papers

NM_004369.4

p.P3082R

c.9245C>G

9 papers

NM_004369.4

p.D563G

c.1688A>G

9 papers

NM_004369.4

p.R677H

c.2030G>A

9 papers

NM_004369.4

p.R1064Q

c.3191G>A