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.P503del1

c.1507_1509delTGG

Surrounding Variants

2 papers

NM_004369.4

p.E496_T504delFs

c.1487_1512del26

1 paper

NM_004369.4

p.H502Y

c.1504C>T

2 papers

NM_004369.4

p.R513W

c.1537C>T

1 paper

NM_004369.4

p.R513Q

c.1538G>A

1 paper

NM_004369.4

p.R494W

c.1480A>T

4 papers

NM_057164.5

p.V86A

c.257T>C

NM_004369.4

p.V493A

c.1478T>C

6 papers

NM_004369.4

p.T492S

c.1475C>G

6 papers

NM_004369.4

p.T492S

c.1474A>T

3 papers

NM_004369.4

p.D491H

c.1471G>C

1 paper

NM_004369.4

p.P517S

c.1549C>T

1 paper

NM_004369.4

p.G520V

c.1559G>T

3 papers

NM_057166.5

p.S114L

c.341C>T

NM_004369.4

p.S521L

c.1562C>T