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.N429S

c.1286A>G

Surrounding Variants

2 papers

NM_000051.4

p.N429T

c.1286A>C

1 paper

NM_000051.4

p.N429I

c.1286A>T

2 papers

NM_000051.4

p.N429fs

c.1285_1286fs

1 paper

NM_000051.4

p.N429D

c.1285A>G

2 papers

NM_000051.4

p.N429fs

c.1285_1286fs

1 paper

NM_000051.4

p.N429K

c.1287C>A

14 papers

NM_000051.4

p.C430_E431delFs

c.1290_1291delTG

1 paper

NM_000051.4

p.C430S

c.1288T>A

1 paper

NM_000051.4

p.C430G

c.1288T>G

4 papers

NM_000051.4

p.C430fs

c.1288_1289fs

1 paper

NM_000051.4

p.C430fs

c.1288_1289fs

1 paper

NM_000051.4

p.P428H

c.1283C>A