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.A2693T

c.8077G>A

Surrounding Variants

1 paper

NM_000051.4

p.A2693S

c.8077G>T

1 paper

NM_000051.4

p.A2693_G2694del1

c.8079_8081delAGG

2 papers

NM_000051.4

p.L2692*

c.8075T>A

1 paper

NM_000051.4

p.L2692*

c.8075T>G

1 paper

NM_000051.4

p.A2693del1

c.8077_8078delGCA

7 papers

NM_000051.4

p.G2694R

c.8080G>A

6 papers

NM_000051.4

p.G2694R

c.8080G>C

2 papers

NM_000051.4

p.G2694A

c.8081G>C

2 papers

NM_000051.4

p.G2695del1

c.8083_8084delGGT

7 papers

NM_000051.4

p.R2691H

c.8072G>A

2 papers

NM_000051.4

p.R2691P

c.8072G>C

1 paper

NM_000051.4

p.R2691S

c.8071C>A