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.K1754delFs

c.5260delT

Surrounding Variants

4 papers

NM_004369.4

p.K1754R

c.5261A>G

1 paper

NM_004369.4

p.S1755L

c.5264C>T

1 paper

NM_004369.4

p.T1751M

c.5252C>T

1 paper

NM_004369.4

p.Q1760*

c.5278C>T

2 papers

NM_057166.5

p.P1137S

c.3409C>T

1 paper

NM_004369.4

p.R1742P

c.5225G>C

1 paper

NM_004369.4

p.G1770V

c.5309G>T

1 paper

NM_004369.4

p.R1738C

c.5212C>T

1 paper

NM_004369.4

p.R1779T

c.5336G>C

2 papers

NM_004369.4

p.L1723_L1726del0

c.5169_5177del9

5 papers

NM_004369.4

p.L1726R

c.5177T>G

1 paper

NM_004369.4

p.L1726P

c.5177T>C