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

3 papers

NM_005228.5

p.R748G

c.2242A>G

Surrounding Variants

2 papers

NM_005228.5

p.R748_A750insFs

c.2243_2249dup7

1 paper

NM_005228.5

p.R748fs

c.2242_2243fs

1 paper

NM_005228.5

p.R748fs

c.2242_2243fs

1 paper

NM_005228.5

p.R748_A750del0

c.2243_2248del6

1 paper

NM_005228.5

p.R748_A750delFs

c.2243_2249del7

17 papers

NM_005228.5

p.L747F

c.2241A>C

1 paper

NM_005228.5

p.L747L

c.2241A>G

12 papers

NM_005228.5

p.L747F

c.2241A>T

1 paper

NM_005228.5

p.L747_R748delins

c.2241_2244delinsCCCG

2 papers

NM_005228.5

p.R748_A750delFs

c.2242_2248del7

2 papers

NM_005228.5

p.L747_A750Fs

c.2241_2248delinsCFs

2 papers

NM_005228.5

p.R748_A750delFs

c.2243_2250del8