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.L2004fs

c.6010_6011fs

Surrounding Variants

2 papers

NM_000051.4

p.L2004F

c.6010C>T

2 papers

NM_000051.4

p.D2003E

c.6009T>A

1 paper

NM_000051.4

p.L2004H

c.6011T>A

2 papers

NM_000051.4

p.L2004R

c.6011T>G

1 paper

NM_000051.4

p.D2003E

c.6009T>G

2 papers

NM_000051.4

p.L2004_L2005insFs

c.6012_6013insA

3 papers

NM_000051.4

p.L2005I

c.6013C>A

2 papers

NM_000051.4

p.L2005Fs

c.6013delinsAAFs

4 papers

NM_000051.4

p.L2005fs

c.6013_6014fs

1 paper

NM_000051.4

p.L2005V

c.6013C>G

1 paper

NM_000051.4

p.L2005F

c.6013C>T

1 paper

NM_000051.4

p.L2005fs

c.6013_6014fs