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.Y1250S

c.3749A>C

Surrounding Variants

4 papers

NM_057166.5

p.V644I

c.1930G>A

NM_004369.4

p.V1251I

c.3751G>A

3 papers

NM_004369.4

p.R1252C

c.3754C>T

1 paper

NM_004369.4

p.T1253N

c.3758C>A

1 paper

NM_057166.5

p.P639L

c.1916C>T

1 paper

NM_004369.4

p.P1246S

c.3736C>T

1 paper

NM_004369.4

p.I1255V

c.3763A>G

1 paper

NM_004369.4

p.R1257K

c.3770G>A

1 paper

NM_004369.4

p.G1240R

c.3718G>C

1 paper

NM_004369.4

p.G1240R

c.3718G>A

1 paper

NM_004369.4

p.D1239G

c.3716A>G

2 papers

NM_004369.4

p.F1236S

c.3707T>C

2 papers

NM_004369.4

p.V1234M

c.3700G>A