Varaico: Literature-Extracted Genetic Variants

JAK2

5,910 papers

RefSeq Summary

This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required ...

Pfam Domains

FERM_F1aa 39–134UCSCFERM F1 ubiquitin-like domain

FERM_F2aa 142–261UCSCFERM F2 acyl-CoA binding protein-like domain

Jak1_Phlaa 299–381UCSCJak1 pleckstrin homology-like domain

SH2_1aa 398–501UCSCSH2 domain

PK_Tyr_Ser-Thraa 545–805UCSCProtein tyrosine and serine/threonine kinase

PK_Tyr_Ser-Thraa 849–1123UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Janus kinase 2

HGNC Alias Symbol

JTK10

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004972.4

p.A377_K385Fs

c.1129_1154delinsTGTCFs

Surrounding Variants

2 papers

NM_004972.4

p.A377_C384delFs

c.1131_1152del22

1 paper

NM_004972.4

p.A377Fs

c.1131delinsTGCGTFs

1 paper

NM_004972.4

p.A377_Y382Fs

c.1131_1146delinsGTGCCTCCTCCTFs

1 paper

NM_004972.4

p.T376I

c.1127C>T

1 paper

NM_004972.4

p.T376fs

c.1126_1127fs

1 paper

NM_004972.4

p.T376A

c.1126A>G

2 papers

NM_004972.4

p.D378N

c.1132G>A

1 paper

NM_004972.4

p.D378Y

c.1132G>T

1 paper

NM_004972.4

p.D378_K385Fs

c.1132_1154delinsTGTCFs

1 paper

NM_004972.4

p.L375Fs

c.1125delinsTGCGTFs

1 paper

NM_004972.4

p.D378delins

c.1134delinsA

1 paper

NM_004972.4

p.L375delFs

c.1125delA