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

1 paper

NM_002227.4

p.A773G

c.2318C>G

Surrounding Variants

2 papers

NM_002227.4

p.A773V

c.2318C>T

1 paper

NM_002227.4

p.A773D

c.2318C>A

2 papers

NM_002227.4

p.A773S

c.2317G>T

1 paper

NM_002227.4

p.A773P

c.2317G>C

2 papers

NM_002227.4

p.A773T

c.2317G>A

1 paper

NM_002227.4

p.V764_V772delFs

c.2291_2316del26

1 paper

NM_002227.4

p.A774S

c.2320G>T

1 paper

NM_002227.4

p.A774P

c.2320G>C

2 papers

NM_002227.4

p.A774T

c.2320G>A

1 paper

NM_002227.4

p.V772A

c.2315T>C

1 paper

NM_002227.4

p.A774V

c.2321C>T

1 paper

NM_002227.4

p.A774G

c.2321C>G