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

249 papers

NM_005228.5

p.A750P

c.2248G>C

Surrounding Variants

4 papers

NM_005228.5

p.A750T

c.2248G>A

1 paper

NM_005228.5

p.A750delins

c.2248delinsCAAC

2 papers

NM_005228.5

p.A750Fs

c.2248delinsGCFs

3 papers

NM_005228.5

p.A750fs

c.2248_2249fs

2 papers

NM_005228.5

p.A750S

c.2248G>T

2 papers

NM_005228.5

p.A750delFs

c.2249delC

1 paper

NM_005228.5

p.A750fs

c.2248_2249fs

97 papers

NM_005228.5

p.T751del1

c.2251_2252delACA

1 paper

NM_005228.5

p.A750_S752delFs

c.2249_2256del8

1 paper

NM_005228.5

p.S752_K757delFs

c.2254_2269del16

3 papers

NM_005228.5

p.A750_E758delins

c.2248_2273delinsCC

1 paper

NM_005228.5

p.E749_I759delins

c.2245_2276delinsGAAAGCCAACAAGG