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

1–12 of 2635 variants

36 papers

NM_005235.3

p.E542K

c.1624G>A

30 papers

NM_005235.3

p.E452K

c.1354G>A

26 papers

NM_005235.3

p.R393W

c.1177C>T

22 papers

NM_005235.3

p.E872K

c.2614G>A

21 papers

NM_005235.3

p.E141Splc

c.421+58A>G

21 papers

NM_005235.3

p.E545K

c.1633G>A

20 papers

NM_005235.3

p.R711C

c.2131C>T

19 papers

NM_005235.3

p.S303Y

c.908C>A

18 papers

NM_005235.3

p.R103H

c.308G>A

18 papers

NM_005235.3

p.E317K

c.949G>A

18 papers

NM_005235.3

p.R544W

c.1630C>T

18 papers

NM_005235.3

p.R927Q

c.2780G>A