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.K578R

c.1733A>G

Surrounding Variants

3 papers

NM_000051.4

p.K578fs

c.1732_1733fs

2 papers

NM_000051.4

p.K578*

c.1732A>T

2 papers

NM_000051.4

p.M577I

c.1731G>A

1 paper

NM_000051.4

p.K578delFs

c.1734delA

1 paper

NM_000051.4

p.W579R

c.1735T>A

11 papers

NM_000051.4

p.W579*

c.1736G>A

1 paper

NM_000051.4

p.M577K

c.1730T>A

1 paper

NM_000051.4

p.M577T

c.1730T>C

1 paper

NM_000051.4

p.M577fs

c.1729_1730fs

1 paper

NM_000051.4

p.M577V

c.1729A>G

12 papers

NM_000051.4

p.W579*

c.1737G>A

1 paper

NM_000051.4

p.W579C

c.1737G>C