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.R2993R

c.8979A>G

Surrounding Variants

4 papers

NM_000051.4

p.R2993Q

c.8978G>A

2 papers

NM_000051.4

p.R2993_N2994Fs

c.8978_8981delinsATFs

1 paper

NM_000051.4

p.N2994T

c.8981A>C

1 paper

NM_000051.4

p.N2994I

c.8981A>T

2 papers

NM_000051.4

p.R2993G

c.8977C>G

87 papers

NM_000051.4

p.R2993*

c.8977C>T

1 paper

NM_000051.4

p.R2993fs

c.8977_8978fs

7 papers

NM_000051.4

p.L2995I

c.8983C>A

3 papers

NM_000051.4

p.C2991*

c.8973C>A

1 paper

NM_000051.4

p.S2996insFs

c.8987dupG

1 paper

NM_000051.4

p.S2996R

c.8986A>C

1 paper

NM_000051.4

p.C2991S

c.8972G>C