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.I381V

c.1141A>G

Surrounding Variants

2 papers

NM_005235.3

p.A380E

c.1139C>A

1 paper

NM_005235.3

p.E382*

c.1144G>T

2 papers

NM_005235.3

p.A383T

c.1147G>A

1 paper

NM_005235.3

p.Y378*

c.1134C>G

1 paper

NM_005235.3

p.Y378*

c.1134C>A

1 paper

NM_005235.3

p.P377delFs

c.1130delG

1 paper

NM_005235.3

p.P377R

c.1130C>G

1 paper

NM_005235.3

p.P377H

c.1130C>A

1 paper

NM_005235.3

p.D376V

c.1127A>T

2 papers

NM_005235.3

p.D376G

c.1127A>G

1 paper

NM_005235.3

p.D376Y

c.1126G>T

1 paper

NM_005235.3

p.P386T

c.1156C>A