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

4 papers

NM_000051.4

p.V2886fs

c.8656_8657fs

Surrounding Variants

3 papers

NM_000051.4

p.V2886I

c.8656G>A

1 paper

NM_000051.4

p.V2886fs

c.8656_8657fs

2 papers

NM_000051.4

p.V2886insFs

c.8656_8657insT

1 paper

NM_000051.4

p.V2886delins

c.8656_8658delinsATT

1 paper

NM_000051.4

p.V2886A

c.8657T>C

1 paper

NM_000051.4

p.V2886G

c.8657T>G

1 paper

NM_000051.4

p.L2885H

c.8654T>A

1 paper

NM_000051.4

p.L2885P

c.8654T>C

1 paper

NM_000051.4

p.L2885fs

c.8653_8654fs

1 paper

NM_000051.4

p.H2887fs

c.8659_8660fs

11 papers

NM_000051.4

p.L2885insFs

c.8655dupT

5 papers

NM_000051.4

p.H2887D

c.8659C>G