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.E1832K

c.5494G>A

Surrounding Variants

1 paper

NM_000051.4

p.E1832fs

c.5494_5495fs

1 paper

NM_000051.4

p.E1832delFs

c.5495_5496delAA

1 paper

NM_000051.4

p.E1832fs

c.5494_5495fs

1 paper

NM_000051.4

p.E1832V

c.5495A>T

1 paper

NM_000051.4

p.C1831*

c.5493T>A

1 paper

NM_000051.4

p.C1831Y

c.5492G>A

1 paper

NM_000051.4

p.E1832_V1833Splc

c.5496+1G>A

2 papers

NM_000051.4

p.E1832_V1833Splc

c.5496+2T>C

3 papers

NM_000051.4

p.M1830K

c.5489T>A

6 papers

NM_000051.4

p.M1830T

c.5489T>C

8 papers

NM_000051.4

p.M1830V

c.5488A>G

1 paper

NM_000051.4

p.E1832_V1833Splc

c.5496+5G>A