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

2 papers

NM_005235.3

p.D245G

c.734A>G

Surrounding Variants

1 paper

NM_005235.3

p.D245Y

c.733G>T

1 paper

NM_005235.3

p.D245N

c.733G>A

1 paper

NM_005235.3

p.T244T

c.732A>G

3 papers

NM_005235.3

p.T244I

c.731C>T

13 papers

NM_005235.3

p.T244R

c.731C>G

1 paper

NM_005235.3

p.C246*

c.738C>A

1 paper

NM_005235.3

p.T244A

c.730A>G

1 paper

NM_005235.3

p.F247L

c.739T>C

1 paper

NM_005235.3

p.D243E

c.729C>A

1 paper

NM_005235.3

p.F247S

c.740T>C

1 paper

NM_005235.3

p.F247L

c.741T>G

1 paper

NM_005235.3

p.F247L

c.741T>A