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

7 papers

NM_000051.4

p.C2624S

c.7871G>C

Surrounding Variants

2 papers

NM_000051.4

p.C2624F

c.7871G>T

5 papers

NM_000051.4

p.C2624S

c.7870T>A

2 papers

NM_000051.4

p.C2624G

c.7870T>G

1 paper

NM_000051.4

p.D2625H

c.7873G>C

1 paper

NM_000051.4

p.L2623L

c.7869T>C

1 paper

NM_000051.4

p.D2625A

c.7874A>C

1 paper

NM_000051.4

p.D2625G

c.7874A>G

2 papers

NM_000051.4

p.L2623I

c.7867C>A

3 papers

NM_000051.4

p.L2623F

c.7867C>T

16 papers

NM_000051.4

p.D2625E

c.7875T>A

17 papers

NM_000051.4

p.D2625E

c.7875T>G

22 papers

NM_000051.4

p.D2625_A2626delins

c.7875_7876delinsGC