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.M1632V

c.4894A>G

Surrounding Variants

1 paper

NM_000051.4

p.M1632I

c.4896G>A

2 papers

NM_000051.4

p.I1631S

c.4892T>G

1 paper

NM_000051.4

p.R1633G

c.4897A>G

1 paper

NM_000051.4

p.R1633K

c.4898G>A

1 paper

NM_000051.4

p.R1633insFs

c.4899dupA

1 paper

NM_000051.4

p.D1630G

c.4889A>G

2 papers

NM_000051.4

p.D1630N

c.4888G>A

1 paper

NM_000051.4

p.A1634insFs

c.4901dupC

1 paper

NM_000051.4

p.D1630fs

c.4888_4889fs

1 paper

NM_000051.4

p.A1634G

c.4901C>G

2 papers

NM_000051.4

p.V1629V

c.4887G>A

1 paper

NM_000051.4

p.A1634A

c.4902T>G