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.I611insFs

c.1831dupA

Surrounding Variants

4 papers

NM_000051.4

p.E609V

c.1826A>T

1 paper

NM_000051.4

p.K610*

c.1828A>T

2 papers

NM_000051.4

p.K610T

c.1829A>C

1 paper

NM_000051.4

p.E609K

c.1825G>A

3 papers

NM_000051.4

p.E609Q

c.1825G>C

1 paper

NM_000051.4

p.E609fs

c.1825_1826fs

1 paper

NM_000051.4

p.E609_I611delFs

c.1827_1831del5

1 paper

NM_000051.4

p.K610N

c.1830A>C

1 paper

NM_000051.4

p.K610K

c.1830A>G

2 papers

NM_000051.4

p.K610N

c.1830A>T

1 paper

NM_000051.4

p.E609_I611del3

c.1825_1832del9

1 paper

NM_000051.4

p.I611fs

c.1831_1832fs