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.D1705_K1706del2

c.5113_5117del6

Surrounding Variants

2 papers

NM_000051.4

p.E1704K

c.5110G>A

1 paper

NM_000051.4

p.E1704Q

c.5110G>C

1 paper

NM_000051.4

p.E1704*

c.5110G>T

1 paper

NM_000051.4

p.E1704G

c.5111A>G

1 paper

NM_000051.4

p.E1704V

c.5111A>T

1 paper

NM_000051.4

p.E1704D

c.5112A>C

1 paper

NM_000051.4

p.E1704D

c.5112A>T

3 papers

NM_000051.4

p.F1703S

c.5108T>C

2 papers

NM_000051.4

p.D1705N

c.5113G>A

2 papers

NM_000051.4

p.K1706_E1707delFs

c.5118_5121del4

1 paper

NM_000051.4

p.K1706N

c.5118A>C

1 paper

NM_000051.4

p.K1706N

c.5118A>T