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

1 paper

NM_005228.5

p.K37R

c.110A>G

Surrounding Variants

1 paper

NM_005228.5

p.K37E

c.109A>G

1 paper

NM_005228.5

p.K37N

c.111G>C

1 paper

NM_005228.5

p.K37N

c.111G>T

1 paper

NM_005228.5

p.L38_T39insG

c.112_116ins3

3 papers

NM_005228.5

p.L38V

c.112C>G

1 paper

NM_005228.5

p.N36N

c.108C>T

1 paper

NM_005228.5

p.L38F

c.112C>T

1 paper

NM_005228.5

p.N36T

c.107A>C

2 papers

NM_005228.5

p.L38R

c.113T>G

1 paper

NM_005228.5

p.N36_K37insGGT

c.106_110ins9

1 paper

NM_005228.5

p.L38L

c.114C>T

1 paper

NM_005228.5

p.T39_Q40insGGC

c.115_119ins9