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

3 papers

NM_005235.3

p.R484K

c.1451G>A

Surrounding Variants

2 papers

NM_005235.3

p.R484T

c.1451G>C

1 paper

NM_005235.3

p.R484fs

c.1450_1451fs

1 paper

NM_005235.3

p.Q483*

c.1447C>T

2 papers

NM_005235.3

p.V486L

c.1456G>T

2 papers

NM_005235.3

p.V486L

c.1456G>C

1 paper

NM_005235.3

p.V486A

c.1457T>C

1 paper

NM_005235.3

p.V486E

c.1457T>A

1 paper

NM_005235.3

p.V486V

c.1458A>T

1 paper

NM_005235.3

p.N482D

c.1444A>G

1 paper

NM_005235.3

p.I487M

c.1461C>G

6 papers

NM_005235.3

p.R488W

c.1462C>T

2 papers

NM_005235.3

p.R488Q

c.1463G>A