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.E871*

c.2611G>T

Surrounding Variants

4 papers

NM_000051.4

p.E871K

c.2611G>A

1 paper

NM_000051.4

p.E871A

c.2612A>C

1 paper

NM_000051.4

p.N870K

c.2610C>A

1 paper

NM_000051.4

p.N870K

c.2610C>G

4 papers

NM_000051.4

p.N870N

c.2610C>T

12 papers

NM_000051.4

p.N870D

c.2608A>G

2 papers

NM_000051.4

p.P872T

c.2614C>A

1 paper

NM_000051.4

p.P872insFs

c.2614_2615insA

1 paper

NM_000051.4

p.P872fs

c.2614_2615fs

39 papers

NM_000051.4

p.P872S

c.2614C>T

1 paper

NM_000051.4

p.P872L

c.2615C>T

5 papers

NM_000051.4

p.A869E

c.2606C>A