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.Y727S

c.2180A>C

Surrounding Variants

1 paper

NM_004369.4

p.A728delFs

c.2184delG

4 papers

NM_004369.4

p.T732M

c.2195C>T

1 paper

NM_004369.4

p.G736V

c.2207G>T

1 paper

NM_004369.4

p.R738W

c.2212A>T

1 paper

NM_004369.4

p.S715L

c.2144C>T

3 papers

NM_004369.4

p.R740C

c.2218C>T

1 paper

NM_004369.4

p.L711L

c.2133C>G

1 paper

NM_057165.5

p.I496_Q504delFs

c.1487_1512del26

1 paper

NM_004369.4

p.Q708K

c.2122C>A

1 paper

NM_004369.4

p.H705R

c.2114A>G

1 paper

NM_004369.4

p.L703ins1

c.2107_2108insAGG

1 paper

NM_004369.4

p.D701D

c.2103T>C