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.V726G

c.2177T>G

Surrounding Variants

3 papers

NM_005228.5

p.V726A

c.2177T>C

14 papers

NM_005228.5

p.V726M

c.2176G>A

NM_001346941.2

p.V459M

c.1375G>A

1 paper

NM_005228.5

p.V726V

c.2178G>A

2 papers

NM_005228.5

p.V726L

c.2176G>C

2 papers

NM_005228.5

p.V726L

c.2176G>T

6 papers

NM_005228.5

p.T725T

c.2175G>A

1 paper

NM_005228.5

p.T725T

c.2175G>T

2 papers

NM_005228.5

p.Y727N

c.2179T>A

5 papers

NM_005228.5

p.Y727H

c.2179T>C

1 paper

NM_005228.5

p.Y727ins1

c.2180_2181insCCA

1 paper

NM_005228.5

p.Y727S

c.2180A>C

13 papers

NM_005228.5

p.Y727C

c.2180A>G