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

26 papers

NM_005235.3

p.R393W

c.1177C>T

Surrounding Variants

3 papers

NM_005235.3

p.R393R

c.1177C>A

1 paper

NM_005235.3

p.R393L

c.1178G>T

7 papers

NM_005235.3

p.R393Q

c.1178G>A

1 paper

NM_005235.3

p.T394A

c.1180A>G

1 paper

NM_005235.3

p.V395L

c.1183G>C

5 papers

NM_005235.3

p.V391I

c.1171G>A

2 papers

NM_005235.3

p.N390N

c.1170C>T

1 paper

NM_005235.3

p.N390I

c.1169A>T

1 paper

NM_005235.3

p.R396T

c.1187G>C

1 paper

NM_005235.3

p.L389R

c.1166T>G

1 paper

NM_005235.3

p.L389delFs

c.1165delG

2 papers

NM_005235.3

p.E397K

c.1189G>A