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

5 papers

NM_005228.5

p.K860E

c.2578A>G

Surrounding Variants

2 papers

NM_005228.5

p.K860fs

c.2578_2579fs

2 papers

NM_005228.5

p.K860fs

c.2578_2579fs

2 papers

NM_005228.5

p.K860T

c.2579A>C

4 papers

NM_005228.5

p.K860R

c.2579A>G

57 papers

NM_005228.5

p.K860I

c.2579A>T

3 papers

NM_005228.5

p.K860N

c.2580A>C

4 papers

NM_005228.5

p.K860N

c.2580A>T

1 paper

NM_005228.5

p.A859D

c.2576C>A

5 papers

NM_005228.5

p.A859V

c.2576C>T

2 papers

NM_005228.5

p.L861M

c.2581C>A

1 paper

NM_005228.5

p.L861_L862ins6

c.2581_2585ins18

5 papers

NM_005228.5

p.L861V

c.2581C>G