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.L434F

c.1302G>T

Surrounding Variants

1 paper

NM_005235.3

p.L434fs

c.1300_1301fs

2 papers

NM_005235.3

p.L434F

c.1302G>C

1 paper

NM_005235.3

p.L435I

c.1303C>A

1 paper

NM_005235.3

p.S433P

c.1297T>C

2 papers

NM_005235.3

p.I436M

c.1308C>G

1 paper

NM_005235.3

p.I436fs

c.1306_1307fs

1 paper

NM_005235.3

p.L432Q

c.1295T>A

1 paper

NM_005235.3

p.L437F

c.1309C>T

1 paper

NM_005235.3

p.L432L

c.1294C>T

3 papers

NM_005235.3

p.L432M

c.1294C>A

1 paper

NM_005235.3

p.G431V

c.1292G>T

1 paper

NM_005235.3

p.K438Q

c.1312A>C