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.R544Q

c.1631G>A

Surrounding Variants

1 paper

NM_005235.3

p.R544L

c.1631G>T

18 papers

NM_005235.3

p.R544W

c.1630C>T

2 papers

NM_005235.3

p.E545Q

c.1633G>C

21 papers

NM_005235.3

p.E545K

c.1633G>A

1 paper

NM_005235.3

p.F543C

c.1628T>G

1 paper

NM_005235.3

p.E545G

c.1634A>G

1 paper

NM_005235.3

p.E545A

c.1634A>C

2 papers

NM_005235.3

p.F543I

c.1627T>A

1 paper

NM_005235.3

p.F543fs

c.1627_1628fs

1 paper

NM_005235.3

p.F546V

c.1636T>G

1 paper

NM_005235.3

p.F546C

c.1637T>G

1 paper

NM_005235.3

p.E542Q

c.1624G>C