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.Q2269_L2270Splc

c.6807+2T>C

Surrounding Variants

1 paper

NM_000051.4

p.Q2269_L2270Splc

c.6807+1G>A

1 paper

NM_000051.4

p.Q2269_L2270Splc

c.6807+1G>C

1 paper

NM_000051.4

p.Q2269Q

c.6807G>A

1 paper

NM_000051.4

p.Q2269H

c.6807G>C

1 paper

NM_000051.4

p.Q2269H

c.6807G>T

6 papers

NM_000051.4

p.Q2269*

c.6805C>T

1 paper

NM_000051.4

p.T2268S

c.6803C>G

1 paper

NM_000051.4

p.T2268S

c.6802A>T

2 papers

NM_000051.4

p.N2267I

c.6800A>T

1 paper

NM_000051.4

p.N2267fs

c.6799_6800fs

1 paper

NM_000051.4

p.K2266N

c.6798G>C

1 paper

NM_000051.4

p.K2266N

c.6798G>T