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

372 papers

NM_005228.5

p.K745_A750del0

c.2235_2249del15

Surrounding Variants

1 paper

NM_005228.5

p.E746insFs

c.2236dupG

1 paper

NM_005228.5

p.K745ins6

c.2234_2235ins18

1 paper

NM_005228.5

p.K745T

c.2234A>C

29 papers

NM_005228.5

p.K745R

c.2234A>G

4 papers

NM_005228.5

p.K745M

c.2234A>T

1 paper

NM_005228.5

p.E746delFs

c.2236delG

7 papers

NM_005228.5

p.K745_E746delFs

c.2235_2236delGG

1 paper

NM_005228.5

p.K745_L747delFs

c.2235_2239del5

1 paper

NM_005228.5

p.K745_L747del0

c.2235_2240del6

1 paper

NM_005228.5

p.K745_R748del0

c.2235_2243del9

1 paper

NM_005228.5

p.K745_E749delFs

c.2235_2245del11

1 paper

NM_005228.5

p.K745_A750delFs

c.2235_2248del14