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.Q141R

c.422A>G

Surrounding Variants

1 paper

NM_005228.5

p.Q141L

c.422A>T

11 papers

NM_005228.5

p.Q141K

c.421C>A

8 papers

NM_005228.5

p.Q141*

c.421C>T

1 paper

NM_005228.5

p.Q141Q

c.423G>A

1 paper

NM_005228.5

p.L140F

c.420A>C

1 paper

NM_005228.5

p.L140F

c.420A>T

2 papers

NM_005228.5

p.E142K

c.424G>A

2 papers

NM_005228.5

p.E142*

c.424G>T

1 paper

NM_005228.5

p.E142Splc

c.424+1G>A

1 paper

NM_005228.5

p.L140*

c.419T>A

1 paper

NM_005228.5

p.L140*

c.419T>G

1 paper

NM_005228.5

p.E142D

c.426A>C