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

1 paper

NM_000051.4

p.I1476T

c.4427T>C

Surrounding Variants

1 paper

NM_000051.4

p.I1476S

c.4427T>G

1 paper

NM_000051.4

p.I1476fs

c.4426_4427fs

2 papers

NM_000051.4

p.I1476V

c.4426A>G

1 paper

NM_000051.4

p.I1476M

c.4428C>G

1 paper

NM_000051.4

p.N1477fs

c.4429_4430fs

1 paper

NM_000051.4

p.N1477_R1479delFs

c.4430_4436del7

1 paper

NM_000051.4

p.Y1475*

c.4425T>A

1 paper

NM_000051.4

p.Y1475*

c.4425T>G

49 papers

NM_000051.4

p.Y1475C

c.4424A>G

2 papers

NM_000051.4

p.N1477K

c.4431C>A

2 papers

NM_000051.4

p.N1477K

c.4431C>G

3 papers

NM_000051.4

p.Q1478*

c.4432C>T