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.L747Fs

c.2240delinsGCFs

Surrounding Variants

17 papers

NM_005228.5

p.L747*

c.2240T>A

1 paper

NM_005228.5

p.L747Fs

c.2240delinsAAGAGAAGCAACFs

231 papers

NM_005228.5

p.L747S

c.2240T>C

1 paper

NM_005228.5

p.L747Fs

c.2240delinsCCFs

16 papers

NM_005228.5

p.L747*

c.2240T>G

1 paper

NM_005228.5

p.L747delFs

c.2241delA

4 papers

NM_005228.5

p.R748del1

c.2242_2243delAGA

1 paper

NM_005228.5

p.L747_A750delFs

c.2241_2248del8

1 paper

NM_005228.5

p.R748_A750del0

c.2242_2250del9

3 papers

NM_005228.5

p.L747_A750delFs

c.2241_2250del10

2 papers

NM_005228.5

p.L747_T751del0

c.2241_2252del12

1 paper

NM_005228.5

p.L747_T751delFs

c.2241_2253del13