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.L857R

c.2570T>G

Surrounding Variants

1 paper

NM_000051.4

p.L857P

c.2570T>C

2 papers

NM_000051.4

p.L857_F858insFs

c.2571_2572insC

5 papers

NM_000051.4

p.F858insFs

c.2572_2573insT

3 papers

NM_000051.4

p.L857fs

c.2569_2570fs

3 papers

NM_000051.4

p.L857V

c.2569C>G

1 paper

NM_000051.4

p.L857delFs

c.2570delT

202 papers

NM_000051.4

p.F858L

c.2572T>C

2 papers

NM_000051.4

p.F858fs

c.2572_2573fs

1 paper

NM_000051.4

p.F858fs

c.2572_2573fs

1 paper

NM_000051.4

p.N856S

c.2567A>G

1 paper

NM_000051.4

p.N856I

c.2567A>T

1 paper

NM_000051.4

p.L857_F858del0

c.2569_2574del6