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

9 papers

NM_004369.4

p.R677H

c.2030G>A

Surrounding Variants

1 paper

NM_004369.4

p.R677C

c.2029C>T

1 paper

NM_004369.4

p.I676S

c.2027T>G

1 paper

NM_004369.4

p.D685H

c.2053G>C

1 paper

NM_004369.4

p.T686I

c.2057C>T

1 paper

NM_004369.4

p.V666I

c.1996G>A

2 papers

NM_004369.4

p.E690Q

c.2068G>C

1 paper

NM_004369.4

p.V662L

c.1984G>T

1 paper

NM_004369.4

p.V662L

c.1984G>C

1 paper

NM_004369.4

p.V662I

c.1984G>A

1 paper

NM_004369.4

p.L693insFs

c.2077_2078insG

1 paper

NM_004369.4

p.D660N

c.1978G>A

1 paper

NM_004369.4

p.R659R

c.1977C>T