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.R837T

c.2510G>C

Surrounding Variants

1 paper

NM_005235.3

p.R837S

c.2511A>T

1 paper

NM_005235.3

p.R837S

c.2511A>C

11 papers

NM_005235.3

p.R838*

c.2512C>T

8 papers

NM_005235.3

p.R838Q

c.2513G>A

1 paper

NM_005235.3

p.E836A

c.2507A>C

1 paper

NM_005235.3

p.E836*

c.2506G>T

10 papers

NM_005235.3

p.E836K

c.2506G>A

1 paper

NM_005235.3

p.E835D

c.2505A>T

1 paper

NM_005235.3

p.E835D

c.2505A>C

11 papers

NM_005235.3

p.V840I

c.2518G>A

1 paper

NM_005235.3

p.L834R

c.2501T>G

1 paper

NM_005235.3

p.L834Q

c.2501T>A