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.D1293E

c.3879T>A

Surrounding Variants

1 paper

NM_004369.4

p.D1293E

c.3879T>G

2 papers

NM_004369.4

p.D1293N

c.3877G>A

1 paper

NM_004369.4

p.S1290S

c.3870C>T

1 paper

NM_004369.4

p.S1290C

c.3869C>G

1 paper

NM_004369.4

p.N1297N

c.3891C>T

1 paper

NM_004369.4

p.V1299L

c.3895G>T

1 paper

NM_004369.4

p.V1299L

c.3895G>C

3 papers

NM_004369.4

p.R1301W

c.3901C>T

1 paper

NM_004369.4

p.F1284L

c.3852C>G

1 paper

NM_004369.4

p.F1284L

c.3852C>A

1 paper

NM_004369.4

p.F1284L

c.3850T>C

1 paper

NM_004369.4

p.V1282delFs

c.3846delC