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

73 papers

NM_005228.5

p.E746_T751del0

c.2236_2253del18

Surrounding Variants

3 papers

NM_005228.5

p.K745K

c.2235G>A

3 papers

NM_005228.5

p.E746delFs

c.2236_2237delGA

16 papers

NM_005228.5

p.E746del1

c.2236_2237delGAA

1 paper

NM_005228.5

p.K745_L747delins

c.2235_2240delinsAATTCC

1 paper

NM_005228.5

p.K745_L747delins

c.2235_2241delinsAATTCCC

1 paper

NM_005228.5

p.E746_R748delFs

c.2236_2242del7

111 papers

NM_005228.5

p.L747_E749del0

c.2239_2247del9

6 papers

NM_005228.5

p.E746_E749del4

c.2236_2246del12

7 papers

NM_005228.5

p.K745_A750delins

c.2235_2248delinsAATTC

1 paper

NM_005228.5

p.K745_A750Fs

c.2235_2248delinsCFs

1 paper

NM_005228.5

p.K745_A750delins

c.2235_2249delinsTTC

9 papers

NM_005228.5

p.E746_A750delFs

c.2236_2249del14