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

2 papers

NM_005228.5

p.Y113H

c.337T>C

Surrounding Variants

1 paper

NM_005228.5

p.Y113S

c.338A>C

1 paper

NM_005228.5

p.Y113C

c.338A>G

1 paper

NM_005228.5

p.Y112C

c.335A>G

1 paper

NM_005228.5

p.Y112F

c.335A>T

3 papers

NM_005228.5

p.Y113Y

c.339C>T

1 paper

NM_005228.5

p.E114del1

c.340_341delGAA

36 papers

NM_005228.5

p.E114K

c.340G>A

1 paper

NM_005228.5

p.E114Q

c.340G>C

1 paper

NM_005228.5

p.E114*

c.340G>T

2 papers

NM_005228.5

p.Y112H

c.334T>C

1 paper

NM_005228.5

p.E114ins1

c.341_342insACC

1 paper

NM_005228.5

p.E114G

c.341A>G