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.L718Q

c.2153T>A

Surrounding Variants

1 paper

NM_005235.3

p.L718V

c.2152C>G

2 papers

NM_005235.3

p.E717D

c.2151G>T

1 paper

NM_005235.3

p.E717D

c.2151G>C

1 paper

NM_005235.3

p.T716T

c.2148T>G

1 paper

NM_005235.3

p.R720W

c.2158A>T

2 papers

NM_005235.3

p.R720M

c.2159G>T

1 paper

NM_005235.3

p.T716I

c.2147C>T

1 paper

NM_005235.3

p.T716A

c.2146A>G

3 papers

NM_005235.3

p.V721L

c.2161G>T

2 papers

NM_005235.3

p.V721L

c.2161G>C

4 papers

NM_005235.3

p.V721I

c.2161G>A

1 paper

NM_005235.3

p.E715V

c.2144A>T