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.G5W

c.13G>T

Surrounding Variants

16 papers

NM_005228.5

p.G5R

c.13G>A

106 papers

NM_005228.5

p.G5R

c.13G>C

2 papers

NM_005228.5

p.S4S

c.12C>A

1 paper

NM_005228.5

p.G5insFs

c.15dupG

1 paper

NM_005228.5

p.S4S

c.12C>G

1 paper

NM_005228.5

p.G5del1

c.13_14delGGG

1 paper

NM_005228.5

p.G5_A7del0

c.14_19del6

1 paper

NM_005228.5

p.G5E

c.14G>A

3 papers

NM_005228.5

p.G5A

c.14G>C

1 paper

NM_005228.5

p.S4Y

c.11C>A

1 paper

NM_005228.5

p.S4C

c.11C>G

3 papers

NM_005228.5

p.S4F

c.11C>T