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.I706V

c.2116A>G

Surrounding Variants

1 paper

NM_005228.5

p.I706L

c.2116A>C

1 paper

NM_005228.5

p.I706F

c.2116A>T

1 paper

NM_005228.5

p.R705S

c.2115G>C

1 paper

NM_005228.5

p.R705S

c.2115G>T

1 paper

NM_005228.5

p.I706N

c.2117T>A

41 papers

NM_005228.5

p.I706T

c.2117T>C

1 paper

NM_005228.5

p.I706S

c.2117T>G

1 paper

NM_005228.5

p.I706I

c.2118C>A

1 paper

NM_005228.5

p.I706_L707insFs

c.2118_2119ins7

1 paper

NM_005228.5

p.I706M

c.2118C>G

1 paper

NM_005228.5

p.L707_K714delFs

c.2119_2141del23

10 papers

NM_005228.5

p.R705K

c.2114G>A