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

6 papers

NM_005228.5

p.G544G

c.1632T>C

Surrounding Variants

224 papers

NM_005228.5

p.E545K

c.1633G>A

25 papers

NM_005228.5

p.E545Q

c.1633G>C

3 papers

NM_005228.5

p.E545*

c.1633G>T

31 papers

NM_005228.5

p.E545A

c.1634A>C

37 papers

NM_005228.5

p.E545G

c.1634A>G

1 paper

NM_005228.5

p.E545E

c.1635G>A

14 papers

NM_005228.5

p.E545D

c.1635G>C

17 papers

NM_005228.5

p.E545D

c.1635G>T

7 papers

NM_005228.5

p.P546T

c.1636C>A

1 paper

NM_005228.5

p.P546_R547ins4

c.1636_1640ins12

1 paper

NM_005228.5

p.P546A

c.1636C>G

4 papers

NM_005228.5

p.P546S

c.1636C>T