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.R748delFs

c.2244delA

Surrounding Variants

12 papers

NM_005228.5

p.R748K

c.2243G>A

2 papers

NM_005228.5

p.R748T

c.2243G>C

2 papers

NM_005228.5

p.R748I

c.2243G>T

82 papers

NM_005228.5

p.E749del1

c.2245_2246delGAA

2 papers

NM_005228.5

p.E749_A750del2

c.2245_2249del6

2 papers

NM_005228.5

p.E749_T751delFs

c.2245_2251del7

1 paper

NM_005228.5

p.E749_T751del0

c.2245_2253del9

1 paper

NM_005228.5

p.E749_K754del6

c.2245_2261del18

2 papers

NM_005228.5

p.R748_A750insFs

c.2243_2249dup7

1 paper

NM_005228.5

p.R748fs

c.2242_2243fs

3 papers

NM_005228.5

p.R748G

c.2242A>G

1 paper

NM_005228.5

p.R748fs

c.2242_2243fs