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.P2553delFs

c.7659delC

Surrounding Variants

2 papers

NM_000051.4

p.H2552N

c.7654C>A

1 paper

NM_000051.4

p.H2552Y

c.7654C>T

1 paper

NM_000051.4

p.P2553T

c.7657C>A

3 papers

NM_000051.4

p.D2551D

c.7653T>C

1 paper

NM_000051.4

p.D2551E

c.7653T>G

1 paper

NM_000051.4

p.D2551_H2552delins

c.7653_7654delinsAT

5 papers

NM_000051.4

p.P2553H

c.7658C>A

1 paper

NM_000051.4

p.P2553R

c.7658C>G

1 paper

NM_000051.4

p.P2553L

c.7658C>T

4 papers

NM_000051.4

p.H2554D

c.7660C>G

1 paper

NM_000051.4

p.H2554fs

c.7660_7661fs

1 paper

NM_000051.4

p.M2550I

c.7650G>A