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.L3045P

c.9134T>C

Surrounding Variants

2 papers

NM_000051.4

p.L3045I

c.9133C>A

1 paper

NM_000051.4

p.L3045V

c.9133C>G

2 papers

NM_000051.4

p.L3045F

c.9133C>T

1 paper

NM_000051.4

p.L3045L

c.9135C>T

1 paper

NM_000051.4

p.S3046_R3047del2

c.9136_9140del6

1 paper

NM_000051.4

p.S3046R

c.9136A>C

3 papers

NM_000051.4

p.S3046G

c.9136A>G

1 paper

NM_000051.4

p.N3044S

c.9131A>G

2 papers

NM_000051.4

p.N3044I

c.9131A>T

1 paper

NM_000051.4

p.N3044delFs

c.9132delT

2 papers

NM_000051.4

p.S3046N

c.9137G>A

1 paper

NM_000051.4

p.N3044fs

c.9130_9131fs