Varaico: Literature-Extracted Genetic Variants

JAK1

1,174 papers

RefSeq Summary

This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to...

Pfam Domains

FERM_F1aa 36–129UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 147–277UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 284–421UCSCJak1 pleckstrin homology-like domain

SH2_1aa 438–546UCSCSH2 domain

PK_Tyr_Ser-Thraa 583–845UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 875–1149UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 1

HGNC Previous Symbol

JAK1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

86 papers

NM_002227.4

p.V658F

c.1972G>T

Surrounding Variants

6 papers

NM_002227.4

p.V658L

c.1972G>C

10 papers

NM_002227.4

p.V658I

c.1972G>A

1 paper

NM_002227.4

p.V658A

c.1973T>C

1 paper

NM_002227.4

p.C657F

c.1970G>T

1 paper

NM_002227.4

p.C657Y

c.1970G>A

1 paper

NM_002227.4

p.V658V

c.1974C>T

1 paper

NM_002227.4

p.V658fs

c.1972_1973fs

2 papers

NM_002227.4

p.C657R

c.1969T>C

1 paper

NM_002227.4

p.R659C

c.1975C>T

1 paper

NM_002227.4

p.R659S

c.1975C>A

1 paper

NM_002227.4

p.V656A

c.1967T>C

6 papers

NM_002227.4

p.R659R

c.1977C>T