Varaico: Literature-Extracted Genetic Variants

ERBB4

1,485 papers

RefSeq Summary

This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a trans...

Pfam Domains

Recep_L_domainaa 55–167UCSCReceptor L domain

Furin-likeaa 176–335UCSCFurin-like cysteine rich region

Recep_L_domainaa 358–478UCSCReceptor L domain

GF_recep_IVaa 502–634UCSCGrowth factor receptor domain IV

TM_ErbB1aa 653–688UCSCEpidermal growth factor receptor transmembrane-juxtamembrane segment

PK_Tyr_Ser-Thraa 718–974UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

erb-b2 receptor tyrosine kinase 4

HGNC Alias Symbols

ALS19; HER4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005235.3

p.L864P

c.2591T>C

Surrounding Variants

2 papers

NM_005235.3

p.L864R

c.2591T>G

1 paper

NM_005235.3

p.L864I

c.2590C>A

2 papers

NM_005235.3

p.G863E

c.2588G>A

1 paper

NM_005235.3

p.R866I

c.2597G>T

2 papers

NM_005235.3

p.R866K

c.2597G>A

1 paper

NM_005235.3

p.F862V

c.2584T>G

1 paper

NM_005235.3

p.L867I

c.2599C>A

1 paper

NM_005235.3

p.L867P

c.2600T>C

7 papers

NM_005235.3

p.D861Y

c.2581G>T

1 paper

NM_005235.3

p.D861N

c.2581G>A

1 paper

NM_005235.3

p.L868F

c.2604G>T

2 papers

NM_005235.3

p.L868F

c.2604G>C