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.K714delFs

c.2141delT

Surrounding Variants

1 paper

NM_005235.3

p.E715Q

c.2143G>C

3 papers

NM_005235.3

p.E715K

c.2143G>A

1 paper

NM_005235.3

p.E715V

c.2144A>T

1 paper

NM_005235.3

p.T716A

c.2146A>G

1 paper

NM_005235.3

p.L713F

c.2139G>T

1 paper

NM_005235.3

p.L713F

c.2139G>C

1 paper

NM_005235.3

p.T716I

c.2147C>T

1 paper

NM_005235.3

p.T716T

c.2148T>G

1 paper

NM_005235.3

p.L713W

c.2138T>G

1 paper

NM_005235.3

p.L713V

c.2137T>G

6 papers

NM_005235.3

p.I712M

c.2136T>G

1 paper

NM_005235.3

p.I712S

c.2135T>G