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.E3015D

c.9045G>C

Surrounding Variants

2 papers

NM_000051.4

p.E3015D

c.9045G>T

4 papers

NM_000051.4

p.K3016Q

c.9046A>C

3 papers

NM_000051.4

p.E3015G

c.9044A>G

2 papers

NM_000051.4

p.K3016E

c.9046A>G

1 paper

NM_000051.4

p.K3016fs

c.9046_9047fs

1 paper

NM_000051.4

p.K3016_G3019delFs

c.9047_9057del11

2 papers

NM_000051.4

p.K3016R

c.9047A>G

2 papers

NM_000051.4

p.K3016I

c.9047A>T

2 papers

NM_000051.4

p.E3015K

c.9043G>A

1 paper

NM_000051.4

p.E3015Q

c.9043G>C

2 papers

NM_000051.4

p.E3015*

c.9043G>T

1 paper

NM_000051.4

p.Q3014H

c.9042A>C