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

177 papers

NM_000051.4

p.F858L

c.2574T>G

Surrounding Variants

177 papers

NM_000051.4

p.F858L

c.2574T>A

1 paper

NM_000051.4

p.N859delFs

c.2576delA

1 paper

NM_000051.4

p.N859fs

c.2575_2576fs

2 papers

NM_000051.4

p.F858S

c.2573T>C

2 papers

NM_000051.4

p.F858C

c.2573T>G

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

2 papers

NM_000051.4

p.L857_F858insFs

c.2571_2572insC

5 papers

NM_000051.4

p.F858insFs

c.2572_2573insT

1 paper

NM_000051.4

p.N859N

c.2577C>T

10 papers

NM_000051.4

p.D860N

c.2578G>A