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

3 papers

NM_000051.4

p.Q2069*

c.6205C>T

Surrounding Variants

1 paper

NM_000051.4

p.Q2069E

c.6205C>G

1 paper

NM_000051.4

p.Q2069H

c.6207G>C

1 paper

NM_000051.4

p.Q2069H

c.6207G>T

10 papers

NM_000051.4

p.L2068S

c.6203T>C

1 paper

NM_000051.4

p.L2068W

c.6203T>G

2 papers

NM_000051.4

p.N2070S

c.6209A>G

44 papers

NM_000051.4

p.A2067D

c.6200C>A

1 paper

NM_000051.4

p.N2070K

c.6210T>A

1 paper

NM_000051.4

p.N2070K

c.6210T>G

1 paper

NM_000051.4

p.L2071_L2073del3

c.6211_6218del9

3 papers

NM_000051.4

p.A2067S

c.6199G>T

2 papers

NM_000051.4

p.A2067fs

c.6199_6200fs