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.S1447R

c.4341T>A

Surrounding Variants

1 paper

NM_000051.4

p.S1447R

c.4341T>G

2 papers

NM_000051.4

p.S1447N

c.4340G>A

1 paper

NM_000051.4

p.L1448_L1449delFs

c.4342_4346del5

1 paper

NM_000051.4

p.L1448fs

c.4342_4343fs

1 paper

NM_000051.4

p.S1447R

c.4339A>C

3 papers

NM_000051.4

p.L1448*

c.4343T>A

3 papers

NM_000051.4

p.L1448*

c.4343T>G

3 papers

NM_000051.4

p.L1448_L1449insFs

c.4344_4345insA

1 paper

NM_000051.4

p.L1449_L1450del2

c.4345_4349del6

1 paper

NM_000051.4

p.V1446G

c.4337T>G

1 paper

NM_000051.4

p.L1449insFs

c.4345_4346insA

1 paper

NM_000051.4

p.L1449fs

c.4345_4346fs