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

6 papers

NM_005235.3

p.G127E

c.380G>A

Surrounding Variants

1 paper

NM_005235.3

p.G127R

c.379G>C

2 papers

NM_005235.3

p.G127R

c.379G>A

1 paper

NM_005235.3

p.G127delFs

c.380delC

1 paper

NM_005235.3

p.G127fs

c.379_380fs

1 paper

NM_005235.3

p.G127delFs

c.379_380delCC

1 paper

NM_005235.3

p.N128Y

c.382A>T

1 paper

NM_005235.3

p.N128I

c.383A>T

2 papers

NM_005235.3

p.D126G

c.377A>G

2 papers

NM_005235.3

p.D126H

c.376G>C

2 papers

NM_005235.3

p.D126N

c.376G>A

1 paper

NM_005235.3

p.N128K

c.384C>G

1 paper

NM_005235.3

p.N128K

c.384C>A