Varaico: Literature-Extracted Genetic Variants

EGFR

13,423 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR ...

Pfam Domains

Recep_L_domainaa 57–144UCSCReceptor L domain

Recep_L_domainaa 57–168UCSCReceptor L domain

Furin-likeaa 177–338UCSCFurin-like cysteine rich region

Recep_L_domainaa 308–428UCSCReceptor L domain

GF_recep_IVaa 452–584UCSCGrowth factor receptor domain IV

TM_ErbB1aa 593–628UCSCEpidermal growth factor receptor transmembrane-juxtamembrane segment

Gene Aliases

HGNC Name

epidermal growth factor receptor

HGNC Alias Symbols

ERBB1; ERRP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005228.5

p.G901R

c.2701G>C

Surrounding Variants

2 papers

NM_005228.5

p.G901R

c.2701G>A

2 papers

NM_005228.5

p.G901W

c.2701G>T

2 papers

NM_005228.5

p.Y900Y

c.2700C>T

1 paper

NM_005228.5

p.G901A

c.2702G>C

7 papers

NM_005228.5

p.G901V

c.2702G>T

1 paper

NM_005228.5

p.Y900F

c.2699A>T

1 paper

NM_005228.5

p.G901Splc

c.2701+2T>A

2 papers

NM_005228.5

p.S899N

c.2696G>A

2 papers

NM_005228.5

p.G901Splc

c.2701+5G>C

1 paper

NM_005228.5

p.W898*

c.2694G>A

1 paper

NM_005228.5

p.W898*

c.2693G>A

1 paper

NM_005228.5

p.W898S

c.2693G>C