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.T699A

c.2095A>G

Surrounding Variants

4 papers

NM_005235.3

p.P700S

c.2098C>T

1 paper

NM_005235.3

p.P700T

c.2098C>A

2 papers

NM_005235.3

p.P700L

c.2099C>T

1 paper

NM_005235.3

p.P700H

c.2099C>A

1 paper

NM_005235.3

p.P697Q

c.2090C>A

1 paper

NM_005235.3

p.P697S

c.2089C>T

1 paper

NM_005235.3

p.P697A

c.2089C>G

1 paper

NM_005235.3

p.S701R

c.2101A>C

1 paper

NM_005235.3

p.S701R

c.2103T>G

1 paper

NM_005235.3

p.S701R

c.2103T>A

3 papers

NM_005235.3

p.E696A

c.2087A>C

1 paper

NM_005235.3

p.S701delFs

c.2103delA