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.H1821Q

c.5463T>G

Surrounding Variants

1 paper

NM_004369.4

p.H1821Q

c.5463T>A

1 paper

NM_004369.4

p.L1824F

c.5470C>T

1 paper

NM_004369.4

p.P1826S

c.5476C>T

1 paper

NM_004369.4

p.G1827fs

c.5479_5480fs

1 paper

NM_004369.4

p.G1827fs

c.5479_5480fs

1 paper

NM_004369.4

p.G1827delFs

c.5480delC

1 paper

NM_004369.4

p.V1812delFs

c.5435_5436delAA

1 paper

NM_004369.4

p.E1810G

c.5429A>G

1 paper

NM_004369.4

p.L1805V

c.5413C>G

1 paper

NM_004369.4

p.E1804D

c.5412G>T

1 paper

NM_004369.4

p.E1804D

c.5412G>C

1 paper

NM_004369.4

p.E1804K

c.5410G>A