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.S2611fs

c.7831_7832fs

Surrounding Variants

1 paper

NM_000051.4

p.S2611R

c.7831A>C

1 paper

NM_000051.4

p.S2611G

c.7831A>G

2 papers

NM_000051.4

p.S2611_R2612delFs

c.7831_7835del5

1 paper

NM_000051.4

p.S2611R

c.7833T>A

1 paper

NM_000051.4

p.S2611R

c.7833T>G

1 paper

NM_000051.4

p.R2610fs

c.7828_7829fs

1 paper

NM_000051.4

p.R2612fs

c.7834_7835fs

2 papers

NM_000051.4

p.R2610fs

c.7828_7829fs

3 papers

NM_000051.4

p.R2610delFs

c.7829_7830delGA

2 papers

NM_000051.4

p.R2612K

c.7835G>A

2 papers

NM_000051.4

p.R2613insFs

c.7838_7839dupGA

1 paper

NM_000051.4

p.R2612R

c.7836G>A