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

5 papers

NM_004369.4

p.G2053V

c.6158G>T

Surrounding Variants

1 paper

NM_004369.4

p.G2053D

c.6158G>A

4 papers

NM_004369.4

p.G2053C

c.6157G>T

1 paper

NM_004369.4

p.K2052_G2053Splc

c.6157-2A>G

1 paper

NM_004369.4

p.G2056*

c.6166G>T

6 papers

NM_004369.4

p.G2056R

c.6166G>C

6 papers

NM_004369.4

p.G2056R

c.6166G>A

1 paper

NM_004369.4

p.G2056E

c.6167G>A

1 paper

NM_004369.4

p.E2057V

c.6170A>T

1 paper

NM_004369.4

p.E2057G

c.6170A>G

2 papers

NM_004369.4

p.G2059C

c.6175G>T

4 papers

NM_004369.4

p.R2061*

c.6181C>T

1 paper

NM_004369.4

p.R2061delFs

c.6183delT