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

103 papers

NM_005228.5

p.E746_T751del0

c.2237_2251del15

Surrounding Variants

40 papers

NM_005228.5

p.E746K

c.2236G>A

2 papers

NM_005228.5

p.E746Q

c.2236G>C

8 papers

NM_005228.5

p.E746fs

c.2236_2237fs

5 papers

NM_005228.5

p.E746ins6

c.2236_2237ins18

5 papers

NM_005228.5

p.E746*

c.2236G>T

6 papers

NM_005228.5

p.E746delFs

c.2237_2238delAA

10 papers

NM_005228.5

p.E746fs

c.2236_2237fs

2 papers

NM_005228.5

p.E746_L747del1

c.2237_2239delAAT

1 paper

NM_005228.5

p.E746_L747delins

c.2236_2240delinsATTCC

1 paper

NM_005228.5

p.E746_L747delins

c.2236_2241delinsAATTAT

6 papers

NM_005228.5

p.E746_E749delFs

c.2238_2247del10

1 paper

NM_005228.5

p.E746_A750delins

c.2236_2248delinsACCC