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

329 papers

NM_005228.5

p.A750del1

c.2248_2249delGCA

Surrounding Variants

2 papers

NM_005228.5

p.E749A

c.2246A>C

6 papers

NM_005228.5

p.E749G

c.2246A>G

1 paper

NM_005228.5

p.E749V

c.2246A>T

1 paper

NM_005228.5

p.E749_A750delFs

c.2247_2248delAG

1 paper

NM_005228.5

p.A750_T751del2

c.2248_2252del6

1 paper

NM_005228.5

p.E749D

c.2247A>C

1 paper

NM_005228.5

p.E749E

c.2247A>G

1 paper

NM_005228.5

p.E749D

c.2247A>T

2 papers

NM_005228.5

p.A750delFs

c.2248delG

2 papers

NM_005228.5

p.A750delFs

c.2248_2249delGC

1 paper

NM_005228.5

p.E749_E758delins

c.2246_2273delinsAGCC

9 papers

NM_005228.5

p.E749K

c.2245G>A