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.E687*

c.2059G>T

Surrounding Variants

1 paper

NM_005228.5

p.E687K

c.2059G>A

1 paper

NM_005228.5

p.E687A

c.2060A>C

1 paper

NM_005228.5

p.E687G

c.2060A>G

1 paper

NM_005228.5

p.R686S

c.2058G>C

1 paper

NM_005228.5

p.R686_E687delins

c.2058_2059delinsAT

1 paper

NM_005228.5

p.R686K

c.2057G>A

1 paper

NM_005228.5

p.R686M

c.2057G>T

2 papers

NM_005228.5

p.E687_L688Splc

c.2061+2T>C

3 papers

NM_005228.5

p.E685G

c.2054A>G

4 papers

NM_005228.5

p.E685K

c.2053G>A

1 paper

NM_005228.5

p.Q684H

c.2052G>T

3 papers

NM_005228.5

p.Q684R

c.2051A>G