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.K757Q

c.2269A>C

Surrounding Variants

5 papers

NM_005228.5

p.K757E

c.2269A>G

1 paper

NM_005228.5

p.K757*

c.2269A>T

1 paper

NM_005228.5

p.K757T

c.2270A>C

41 papers

NM_005228.5

p.K757R

c.2270A>G

11 papers

NM_005228.5

p.K757M

c.2270A>T

1 paper

NM_005228.5

p.K757del1

c.2269_2270delAAG

6 papers

NM_005228.5

p.N756S

c.2267A>G

1 paper

NM_005228.5

p.K757K

c.2271G>A

9 papers

NM_005228.5

p.K757N

c.2271G>C

9 papers

NM_005228.5

p.K757N

c.2271G>T

2 papers

NM_005228.5

p.N756fs

c.2266_2267fs

1 paper

NM_005228.5

p.N756H

c.2266A>C