Varaico: Literature-Extracted Genetic Variants

BTK

1,389 papers

RefSeq Summary

The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure ...

Pfam Domains

PHaa 4–133UCSCPH domain

BTKaa 141–170UCSCBTK motif

SH3_1aa 220–266UCSCSH3 domain

SH2aa 281–355UCSCSH2 domain

SH2aa 281–362UCSCSH2 domain

PK_Tyr_Ser-Thraa 402–651UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

Bruton tyrosine kinase

HGNC Previous Symbols

AGMX1; IMD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000061.3

p.P566A

c.1696C>G

Surrounding Variants

6 papers

NM_000061.3

p.P566S

c.1696C>T

6 papers

NM_000061.3

p.P566L

c.1697C>T

2 papers

NM_000061.3

p.P566R

c.1697C>G

1 paper

NM_000061.3

p.P566Q

c.1697C>A

1 paper

NM_000061.3

p.R562_P566delFs

c.1686_1696del11

5 papers

NM_000061.3

p.P565L

c.1694C>T

8 papers

NM_000061.3

p.E567Q

c.1699G>C

7 papers

NM_000061.3

p.E567K

c.1699G>A

5 papers

NM_000061.3

p.P565S

c.1693C>T

3 papers

NM_000061.3

p.P565T

c.1693C>A

1 paper

NM_000061.3

p.E567fs

c.1699_1700fs

1 paper

NM_000061.3

p.E567G

c.1700A>G