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.L480fs

c.1438_1439fs

Surrounding Variants

1 paper

NM_005228.5

p.L480fs

c.1438_1439fs

2 papers

NM_005228.5

p.L480delins

c.1438_1439delinsAA

1 paper

NM_005228.5

p.F481_G482delFs

c.1441_1444del4

1 paper

NM_005228.5

p.L480_G485delFs

c.1439_1454del16

5 papers

NM_005228.5

p.L480_G485del0

c.1438_1455del18

4 papers

NM_005228.5

p.L480_Q486del7

c.1438_1457del21

3 papers

NM_005228.5

p.L480P

c.1439T>C

1 paper

NM_005228.5

p.L480R

c.1439T>G

1 paper

NM_005228.5

p.L480_T483delFs

c.1440_1449del10

3 papers

NM_005228.5

p.K479_S484del0

c.1437_1451del15

1 paper

NM_005228.5

p.K479_G485delins

c.1436_1454delinsT

1 paper

NM_005228.5

p.L480L

c.1440G>T