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.L419*

c.1256T>G

Surrounding Variants

2 papers

NM_000051.4

p.L419*

c.1256T>A

1 paper

NM_000051.4

p.L419S

c.1256T>C

1 paper

NM_000051.4

p.I420delFs

c.1258delA

1 paper

NM_000051.4

p.L419ins2

c.1255_1256ins6

12 papers

NM_000051.4

p.Q418Q

c.1254A>G

1 paper

NM_000051.4

p.I420fs

c.1258_1259fs

1 paper

NM_000051.4

p.I420T

c.1259T>C

2 papers

NM_000051.4

p.I420insFs

c.1259_1260insA

1 paper

NM_000051.4

p.I420_S421del1

c.1260_1262delATC

1 paper

NM_000051.4

p.I420_E431del0

c.1260_1292del33

1 paper

NM_000051.4

p.I420M

c.1260A>G

1 paper

NM_000051.4

p.Q418K

c.1252C>A