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

23 papers

NM_005228.5

p.L718P

c.2153T>C

Surrounding Variants

181 papers

NM_005228.5

p.L718Q

c.2153T>A

3 papers

NM_005228.5

p.L718R

c.2153T>G

3 papers

NM_005228.5

p.L718delFs

c.2154delG

17 papers

NM_005228.5

p.L718M

c.2152C>A

1 paper

NM_005228.5

p.L718fs

c.2152_2153fs

84 papers

NM_005228.5

p.L718V

c.2152C>G

1 paper

NM_005228.5

p.L718L

c.2154G>C

1 paper

NM_005228.5

p.L718L

c.2154G>T

1 paper

NM_005228.5

p.L718_G719delins

c.2154_2155delinsTA

14 papers

NM_005228.5

p.L718_G719delins

c.2154_2155delinsTT

1023 papers

NM_005228.5

p.G719S

c.2155G>A

35 papers

NM_005228.5

p.G719R

c.2155G>C