Varaico: Literature-Extracted Genetic Variants

COL7A1

1,154 papers

RefSeq Summary

This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous ...

Pfam Domains

VWAaa 38–209UCSCvon Willebrand factor type A domain

fn3aa 233–325UCSCFibronectin type III domain

fn3aa 329–412UCSCFibronectin type III domain

fn3aa 420–500UCSCFibronectin type III domain

fn3aa 509–591UCSCFibronectin type III domain

fn3aa 599–681UCSCFibronectin type III domain

Gene Aliases

HGNC Name

collagen type VII alpha 1 chain

HGNC Previous Symbols

EBDCT; EBD1; EBR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

76 papers

NM_000094.4

p.G2043R

c.6127G>C

Surrounding Variants

9 papers

NM_000094.4

p.G2043W

c.6127G>T

77 papers

NM_000094.4

p.G2043R

c.6127G>A

3 papers

NM_000094.4

p.G2043E

c.6128G>A

1 paper

NM_000094.4

p.G2043fs

c.6127_6128fs

1 paper

NM_000094.4

p.L2044F

c.6130C>T

1 paper

NM_000094.4

p.P2045S

c.6133C>T

11 papers

NM_000094.4

p.G2040V

c.6119G>T

10 papers

NM_000094.4

p.G2040D

c.6119G>A

1 paper

NM_000094.4

p.G2046R

c.6136G>C

1 paper

NM_000094.4

p.G2040R

c.6118G>C

21 papers

NM_000094.4

p.G2040S

c.6118G>A

3 papers

NM_000094.4

p.G2046S

c.6136G>A