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

134 papers

NM_005228.5

p.V769L

c.2305G>T

Surrounding Variants

94 papers

NM_005228.5

p.V769M

c.2305G>A

129 papers

NM_005228.5

p.V769L

c.2305G>C

1 paper

NM_005228.5

p.V769fs

c.2305_2306fs

4 papers

NM_005228.5

p.V769_D770insASV

c.2305_2309ins9

1 paper

NM_005228.5

p.D770ins3

c.2308_2309ins9

2 papers

NM_005228.5

p.V769delins

c.2305_2306delinsTGTCC

7 papers

NM_005228.5

p.S768R

c.2304C>A

2 papers

NM_005228.5

p.D770ins1

c.2308_2309insTGG

3 papers

NM_005228.5

p.D770ins3

c.2308_2309ins9

7 papers

NM_005228.5

p.S768R

c.2304C>G

1 paper

NM_005228.5

p.S768S

c.2304C>T

1 paper

NM_005228.5

p.V769E

c.2306T>A