Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000051.4

p.K296R

c.887A>G

Surrounding Variants

1 paper

NM_000051.4

p.K296I

c.887A>T

1 paper

NM_000051.4

p.K296E

c.886A>G

1 paper

NM_000051.4

p.K296*

c.886A>T

1 paper

NM_000051.4

p.T297S

c.889A>T

1 paper

NM_000051.4

p.T297delFs

c.890delC

1 paper

NM_000051.4

p.T297_Q298delFs

c.891_892delCC

1 paper

NM_000051.4

p.A295A

c.885C>A

1 paper

NM_000051.4

p.A295A

c.885C>T

1 paper

NM_000051.4

p.K296delFs

c.888delA

1 paper

NM_000051.4

p.A295D

c.884C>A

3 papers

NM_000051.4

p.T297I

c.890C>T

2 papers

NM_000051.4

p.A295V

c.884C>T