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.N1087K

c.3261C>G

Surrounding Variants

1 paper

NM_004369.4

p.N1087K

c.3261C>A

4 papers

NM_004369.4

p.K1088Q

c.3262A>C

1 paper

NM_004369.4

p.Q1089R

c.3266A>G

2 papers

NM_004369.4

p.A1094T

c.3280G>A

7 papers

NM_057164.5

p.R689C

c.2065C>T

NM_004369.4

p.R1096C

c.3286C>T

NM_057166.5

p.R489C

c.1465C>T

1 paper

NM_004369.4

p.R1096H

c.3287G>A

1 paper

NM_004369.4

p.Q1097*

c.3289C>T

1 paper

NM_004369.4

p.Q1097R

c.3290A>G

1 paper

NM_057166.5

p.T492S

c.1474A>T

1 paper

NM_057166.5

p.T492S

c.1475C>G

1 paper

NM_004369.4

p.R1075W

c.3223C>T

1 paper

NM_004369.4

p.T1099_L1101del0

c.3295_3303del9