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

12 papers

NM_000051.4

p.L275*

c.824T>G

Surrounding Variants

12 papers

NM_000051.4

p.L275*

c.824T>A

1 paper

NM_000051.4

p.L275S

c.824T>C

1 paper

NM_000051.4

p.L275insFs

c.824_825ins10

1 paper

NM_000051.4

p.L275delFs

c.825delA

1 paper

NM_000051.4

p.L275F

c.825A>C

2 papers

NM_000051.4

p.L275F

c.825A>T

1 paper

NM_000051.4

p.L275_V278Fs

c.825_832delinsTAAAGAAFs

3 papers

NM_000051.4

p.L275fs

c.823_824fs

1 paper

NM_000051.4

p.L275fs

c.823_824fs

1 paper

NM_000051.4

p.K276fs

c.826_827fs

2 papers

NM_000051.4

p.K276Q

c.826A>C

2 papers

NM_000051.4

p.K276E

c.826A>G