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.E574insFs

c.1721dupA

Surrounding Variants

1 paper

NM_000051.4

p.E574K

c.1720G>A

1 paper

NM_000051.4

p.E574*

c.1720G>T

1 paper

NM_000051.4

p.S575_I576del2

c.1723_1727del6

1 paper

NM_000051.4

p.K573K

c.1719G>A

1 paper

NM_000051.4

p.E574_S575del2

c.1720_1724del6

3 papers

NM_000051.4

p.E574D

c.1722A>C

2 papers

NM_000051.4

p.E574E

c.1722A>G

3 papers

NM_000051.4

p.E574D

c.1722A>T

1 paper

NM_000051.4

p.K573fs

c.1717_1718fs

1 paper

NM_000051.4

p.K573fs

c.1717_1718fs

2 papers

NM_000051.4

p.S575A

c.1723T>G

1 paper

NM_000051.4

p.S575fs

c.1723_1724fs